P42L (p.Pro42Leu) variant of KMT2E (Histone reader KMT2E)
P42L (p.Pro42Leu) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
P42L (p.Pro42Leu) variant details
- p.Pro42Leu
- gnomAD 7-105062217-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.63
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available