V28L (p.Val28Leu) variant of KMT2E (Histone reader KMT2E)
V28L (p.Val28Leu) 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.
V28L (p.Val28Leu) variant details
- p.Val28Leu
- gnomAD 7-105062174-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.50
- CADD 27.10
- PolyPhen-2 0.98
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available