P26A (p.Pro26Ala) variant of ACVR1 (Activin receptor type-1)
P26A (p.Pro26Ala) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P26A (p.Pro26Ala) variant details
- p.Pro26Ala
- cosmic curated COSV55117
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.18
- CADD 16.70
- PolyPhen-2 0.01
- SIFT 0.55
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available