L17S (p.Leu17Ser) variant of KMT2E (Histone reader KMT2E)
L17S (p.Leu17Ser) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L17S (p.Leu17Ser) variant details
- p.Leu17Ser
- gnomAD 7-105041002-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.49
- CADD 23.20
- PolyPhen-2 0.40
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available