G8A (p.Gly8Ala) variant of KMT2E (Histone reader KMT2E)
G8A (p.Gly8Ala) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
G8A (p.Gly8Ala) variant details
- p.Gly8Ala
- ExAC rs749224010
- gnomAD rs749224010
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.64
- CADD 25.90
- PolyPhen-2 0.73
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available