A31S (p.Ala31Ser) variant of KMT2C (Q8NEZ4)
A31S (p.Ala31Ser) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
A31S (p.Ala31Ser) variant details
- p.Ala31Ser
- TOPMed rs1203336192
- Missense
- REVEL 0.34
- CADD 21.80
- PolyPhen-2 0.85
- SIFT 0.63
- Population evidence available