P29S (p.Pro29Ser) variant of KMT2C (Q8NEZ4)
P29S (p.Pro29Ser) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
P29S (p.Pro29Ser) variant details
- p.Pro29Ser
- Ensembl rs2097911335
- Missense
- REVEL 0.13
- CADD 18.60
- PolyPhen-2 0.02
- SIFT 0.08
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.1e-05)