Y46C (p.Tyr46Cys) variant of KMT2E (Histone reader KMT2E)
Y46C (p.Tyr46Cys) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
Y46C (p.Tyr46Cys) variant details
- p.Tyr46Cys
- Ensembl rs1562899790
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.54
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available