P85L (p.Pro85Leu) variant of ACVR1 (Activin receptor type-1)
P85L (p.Pro85Leu) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
P85L (p.Pro85Leu) variant details
- p.Pro85Leu
- cosmic curated COSV55122
- TOPMed rs1329223493
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.61
- CADD 23.10
- PolyPhen-2 0.06
- SIFT 0.08
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available