A100V (p.Ala100Val) variant of MYH6 (Myosin-6)
A100V (p.Ala100Val) in MYH6 (Myosin-6) 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 0.79 / 1. The record also includes population frequency data and structural context.
A100V (p.Ala100Val) variant details
- p.Ala100Val
- NCI-TCGA Cosmic COSV6244
- cosmic curated COSV62449
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.81
- CADD 25.60
- PolyPhen-2 0.72
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available