G29S (p.Gly29Ser) variant of ACVRL1 (Activin receptor type-1-like)
G29S (p.Gly29Ser) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
G29S (p.Gly29Ser) variant details
- p.Gly29Ser
- gnomAD rs1940729566
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.22
- CADD 10.90
- PolyPhen-2 0.00
- SIFT 0.80
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available