R50G (p.Arg50Gly) variant of KMT2D (O14686)
R50G (p.Arg50Gly) in KMT2D (O14686) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R50G (p.Arg50Gly) variant details
- p.Arg50Gly
- TOPMed rs1360034258
- gnomAD rs1360034258
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.25
- MetaLR 0.25
- MetaSVM -0.81
- CADD 14.20
- PolyPhen-2 0.05
- SIFT 0.40
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available