E64G (p.Glu64Gly) variant of MYL2 (P10916)
E64G (p.Glu64Gly) in MYL2 (P10916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
E64G (p.Glu64Gly) variant details
- p.Glu64Gly
- gnomAD 12-110914269-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.81
- MetaLR 0.61
- MetaSVM 0.33
- CADD 28.90
- PolyPhen-2 0.79
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available