V36A (p.Val36Ala) variant of ACVR1 (Activin receptor type-1)
V36A (p.Val36Ala) in ACVR1 (Activin receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
V36A (p.Val36Ala) variant details
- p.Val36Ala
- rs377466501
- ClinGen CA1919218
- ClinVar RCV003561396
- ESP rs377466501
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.38
- CADD 22.20
- PolyPhen-2 0.02
- SIFT 0.45
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00014)
- Structural context available