A32S (p.Ala32Ser) variant of KMT2C (Q8NEZ4)
A32S (p.Ala32Ser) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
A32S (p.Ala32Ser) variant details
- p.Ala32Ser
- TOPMed rs1261470329
- gnomAD rs1261470329
- Missense
- REVEL 0.20
- CADD 15.90
- PolyPhen-2 0.02
- SIFT 0.55
- Most common in the East Asian population (allele frequency 5.9e-05)