E64D (p.Glu64Asp) variant of MYL2 (P10916)
E64D (p.Glu64Asp) in MYL2 (P10916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E64D (p.Glu64Asp) variant details
- p.Glu64Asp
- gnomAD 12-110914268-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.41
- MetaLR 0.29
- MetaSVM -0.90
- CADD 15.50
- PolyPhen-2 0.01
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available