D10G (p.Asp10Gly) variant of KMT2E (Histone reader KMT2E)
D10G (p.Asp10Gly) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
D10G (p.Asp10Gly) variant details
- p.Asp10Gly
- ESP rs140507140
- ExAC rs140507140
- gnomAD rs140507140
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.45
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available