G8R (p.Gly8Arg) variant of KMT2E (Histone reader KMT2E)
G8R (p.Gly8Arg) 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 0.68 / 1. The record also includes population frequency data and structural context.
G8R (p.Gly8Arg) variant details
- p.Gly8Arg
- Ensembl rs569333122
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.65
- CADD 23.10
- PolyPhen-2 0.09
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available