A62V (p.Ala62Val) variant of KMT2E (Histone reader KMT2E)
A62V (p.Ala62Val) 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, published literature, and structural context.
A62V (p.Ala62Val) variant details
- p.Ala62Val
- gnomAD 7-105062277-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.57
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available