A49V (p.Ala49Val) variant of ACVRL1 (Activin receptor type-1-like)
A49V (p.Ala49Val) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. 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.
A49V (p.Ala49Val) variant details
- p.Ala49Val
- cosmic curated COSV66359
- TOPMed rs1169329926
- gnomAD rs1169329926
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.23
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available