A12V (p.Ala12Val) variant of KMT2E (Histone reader KMT2E)
A12V (p.Ala12Val) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- gnomAD 7-105040987-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.44
- CADD 24.00
- PolyPhen-2 0.07
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available