G61C (p.Gly61Cys) variant of KMT2D (O14686)
G61C (p.Gly61Cys) in KMT2D (O14686) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G61C (p.Gly61Cys) variant details
- p.Gly61Cys
- TOPMed rs1938304119
- gnomAD rs1938304119
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.34
- MetaLR 0.26
- MetaSVM -0.60
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available