A30E (p.Ala30Glu) variant of KMT2C (Q8NEZ4)
A30E (p.Ala30Glu) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
A30E (p.Ala30Glu) variant details
- p.Ala30Glu
- Ensembl rs2116821500
- Missense
- REVEL 0.34
- CADD 24.30
- PolyPhen-2 0.93
- SIFT 0.01
- Population evidence available