Q23E (p.Gln23Glu) variant of MYL2 (P10916)
Q23E (p.Gln23Glu) in MYL2 (P10916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
Q23E (p.Gln23Glu) variant details
- p.Gln23Glu
- gnomAD rs1157086995
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.46
- CADD 24.40
- PolyPhen-2 0.94
- SIFT 0.06
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available