A2G (p.Ala2Gly) variant of MYH11 (Myosin-11)
A2G (p.Ala2Gly) in MYH11 (Myosin-11) 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 0.55 / 1. The record also includes population frequency data and structural context.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.41
- CADD 23.80
- PolyPhen-2 0.12
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available