V76A (p.Val76Ala) variant of MYH7 (Myosin-7)
V76A (p.Val76Ala) in MYH7 (Myosin-7) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
V76A (p.Val76Ala) variant details
- p.Val76Ala
- NCI-TCGA TCGA novel
- Ensembl rs1595091109
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.47
- MetaLR 0.85
- MetaSVM 0.81
- CADD 28.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available