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 0.46 / 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 0.465
- REVEL 0.50
- ESM-1b 1.00
- AlphaMissense 0.46
- MetaLR 0.64
- MetaSVM -0.59
- CADD 20.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available