G8D (p.Gly8Asp) variant of KMT2D (O14686)
G8D (p.Gly8Asp) in KMT2D (O14686) 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.
G8D (p.Gly8Asp) variant details
- p.Gly8Asp
- Ensembl rs2120718461
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.38
- MetaLR 0.27
- MetaSVM -0.68
- CADD 20.50
- PolyPhen-2 0.19
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available