G90V (p.Gly90Val) variant of KMT2E (Histone reader KMT2E)
G90V (p.Gly90Val) in KMT2E (Histone reader KMT2E) is a missense change. Clinical records from ClinVar 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 0.59 / 1. The record also includes population frequency data and structural context.
G90V (p.Gly90Val) variant details
- p.Gly90Val
- TOPMed rs1796902123
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.49
- CADD 23.40
- PolyPhen-2 0.18
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available