S40N (p.Ser40Asn) variant of KMT2E (Histone reader KMT2E)
S40N (p.Ser40Asn) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S40N (p.Ser40Asn) variant details
- p.Ser40Asn
- gnomAD 7-105062211-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.40
- CADD 25.90
- PolyPhen-2 0.87
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available