V91M (p.Val91Met) variant of ACVR1 (Activin receptor type-1)
V91M (p.Val91Met) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
V91M (p.Val91Met) variant details
- p.Val91Met
- rs1686460106
- ClinGen CA349193528
- ClinVar RCV003489733
- TOPMed rs1686460106
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.65
- CADD 23.70
- PolyPhen-2 0.63
- SIFT 0.16
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available