Y46H (p.Tyr46His) variant of KMT2E (Histone reader KMT2E)
Y46H (p.Tyr46His) 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 0.46 / 1. The record also includes population frequency data and structural context.
Y46H (p.Tyr46His) variant details
- p.Tyr46His
- rs1796843653
- ClinGen CA368774186
- ClinVar RCV003666114
- Ensembl rs1796843653
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.34
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available