G60V (p.Gly60Val) variant of KMT2D (O14686)
G60V (p.Gly60Val) in KMT2D (O14686) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G60V (p.Gly60Val) variant details
- p.Gly60Val
- TOPMed rs1421460851
- gnomAD rs1421460851
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.28
- MetaLR 0.20
- MetaSVM -0.84
- CADD 18.20
- PolyPhen-2 0.03
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available