P85S (p.Pro85Ser) variant of ACVR1 (Activin receptor type-1)
P85S (p.Pro85Ser) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
P85S (p.Pro85Ser) variant details
- p.Pro85Ser
- cosmic curated COSV10962
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.45
- CADD 21.50
- PolyPhen-2 0.10
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available