S23L (p.Ser23Leu) variant of KMT2E (Histone reader KMT2E)
S23L (p.Ser23Leu) in KMT2E (Histone reader KMT2E) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
S23L (p.Ser23Leu) variant details
- p.Ser23Leu
- rs1584714647
- ClinVar RCV004588938
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.78
- CADD 24.70
- PolyPhen-2 0.07
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available