A73V (p.Ala73Val) variant of MYL2 (P10916)
A73V (p.Ala73Val) in MYL2 (P10916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
A73V (p.Ala73Val) variant details
- p.Ala73Val
- gnomAD 12-110914242-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.61
- MetaLR 0.56
- MetaSVM 0.11
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available