E65G (p.Glu65Gly) variant of MYL2 (P10916)
E65G (p.Glu65Gly) 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.
E65G (p.Glu65Gly) variant details
- p.Glu65Gly
- gnomAD 12-110914266-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.79
- MetaLR 0.72
- MetaSVM 0.57
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available