P17S (p.Pro17Ser) variant of KMT2C (Q8NEZ4)
P17S (p.Pro17Ser) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
P17S (p.Pro17Ser) variant details
- p.Pro17Ser
- Ensembl rs2116821820
- Missense
- REVEL 0.23
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 3e-05)