E31D (p.Glu31Asp) variant of MYL2 (P10916)
E31D (p.Glu31Asp) in MYL2 (P10916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
E31D (p.Glu31Asp) variant details
- p.Glu31Asp
- gnomAD 12-110914310-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0863
- CADD 4.64
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available