G47R (p.Gly47Arg) variant of KMT2D (O14686)
G47R (p.Gly47Arg) in KMT2D (O14686) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G47R (p.Gly47Arg) variant details
- p.Gly47Arg
- TOPMed rs1938317391
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.31
- MetaLR 0.36
- MetaSVM -0.04
- CADD 24.00
- PolyPhen-2 0.66
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available