M34V (p.Met34Val) variant of ACVR1 (Activin receptor type-1)
M34V (p.Met34Val) in ACVR1 (Activin receptor type-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
M34V (p.Met34Val) variant details
- p.Met34Val
- rs370437421
- cosmic curated COSV55121
- ESP rs370437421
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.25
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.28
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available