A11S (p.Ala11Ser) variant of MYH6 (Myosin-6)
A11S (p.Ala11Ser) 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 0.28 / 1. The record also includes population frequency data and structural context.
A11S (p.Ala11Ser) variant details
- p.Ala11Ser
- rs1229334328
- NCI-TCGA Cosmic COSV6244
- cosmic curated COSV62448
- gnomAD rs1229334328
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.18
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available