G38V (p.Gly38Val) variant of KMT2C (Q8NEZ4)
G38V (p.Gly38Val) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
G38V (p.Gly38Val) variant details
- p.Gly38Val
- Ensembl rs2116821343
- Missense
- REVEL 0.52
- CADD 24.40
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available