A16V (p.Ala16Val) variant of ACVRL1 (Activin receptor type-1-like)
A16V (p.Ala16Val) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- rs2277382
- gnomAD 12-51912437-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- CADD 6.15
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 0.5)
- Structural context available
- Cited in: TGFβ receptor gene variants in systemic sclerosis-related pulmonary arterial hypertension: results from a multicentre… (PMID 22896741)
- Cited in: Genome-wide data-mining of candidate human splice translational efficiency polymorphisms (STEPs) and an online database. (PMID 20948966)