AFAP1

Chr 4

actin filament associated protein 1

Also known as: AFAP, AFAP-110, AFAP110

The protein encoded by this gene is a Src binding partner. It may represent a potential modulator of actin filament integrity in response to cellular signals, and may function as an adaptor protein by linking Src family members and/or other signaling proteins to actin filaments. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

ResearchGenerating clinical summary…
0
Active trials
35
Pubs (1 yr)
P/LP submissions
P/LP missense
0.67
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.67LOEUF
pLI 0.000
Z-score 3.24
OE 0.45 (0.310.67)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.91Z-score
OE missense 1.11 (1.041.20)
558 obs / 500.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.45 (0.310.67)
00.351.4
Missense OE?1.11 (1.041.20)
00.61.4
Synonymous OE?1.26
01.21.6
LoF obs/exp: 18 / 40.1Missense obs/exp: 558 / 500.8Syn Z: -3.01

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

AFAP1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →