E36A (p.Glu36Ala) variant of KMT2E (Histone reader KMT2E)
E36A (p.Glu36Ala) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
E36A (p.Glu36Ala) variant details
- p.Glu36Ala
- gnomAD 7-105062199-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.61
- CADD 26.70
- PolyPhen-2 0.55
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available