V138A (p.Val138Ala) variant of MYH6 (Myosin-6)
V138A (p.Val138Ala) in MYH6 (Myosin-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
V138A (p.Val138Ala) variant details
- p.Val138Ala
- ExAC rs763139129
- gnomAD rs763139129
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.72
- CADD 25.10
- PolyPhen-2 0.69
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available