A10V (p.Ala10Val) variant of MYL2 (P10916)
A10V (p.Ala10Val) in MYL2 (P10916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A10V (p.Ala10Val) variant details
- p.Ala10Val
- cosmic curated COSV10955
- Ensembl rs2136777450
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.23
- CADD 3.28
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available