S2P (p.Ser2Pro) variant of KMT2C (Q8NEZ4)
S2P (p.Ser2Pro) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
S2P (p.Ser2Pro) variant details
- p.Ser2Pro
- Ensembl rs1362257174
- Missense
- REVEL 0.47
- CADD 25.40
- PolyPhen-2 0.86
- SIFT 0.00
- Population evidence available