Y15C (p.Tyr15Cys) variant of MYH7 (Myosin-7)
Y15C (p.Tyr15Cys) in MYH7 (Myosin-7) 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.
Y15C (p.Tyr15Cys) variant details
- p.Tyr15Cys
- rs1410564846
- NCI-TCGA Cosmic COSV6252
- gnomAD rs1410564846
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.50
- CADD 21.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available