G44V (p.Gly44Val) variant of KMT2C (Q8NEZ4)
G44V (p.Gly44Val) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
G44V (p.Gly44Val) variant details
- p.Gly44Val
- Ensembl rs868067467
- Missense
- REVEL 0.48
- CADD 24.60
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available