L45L (p.Leu45Leu) variant of KMT2E (Histone reader KMT2E)
L45L (p.Leu45Leu) in KMT2E (Histone reader KMT2E) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L45L (p.Leu45Leu) variant details
- p.Leu45Leu
- rs772104225
- gnomAD 7-105062227-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.219
- CADD 10.70
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available