G39R (p.Gly39Arg) variant of KMT2D (O14686)
G39R (p.Gly39Arg) in KMT2D (O14686) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Kabuki syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
G39R (p.Gly39Arg) variant details
- p.Gly39Arg
- ExAC rs753608064
- TOPMed rs753608064
- gnomAD rs753608064
- Likely benign
- Kabuki syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.40
- MetaLR 0.38
- MetaSVM 0.01
- CADD 25.10
- PolyPhen-2 0.77
- SIFT 0.01
- ClinVar: Likely benign (Kabuki syndrome)
- UniProt: Likely benign
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available