P36S (p.Pro36Ser) variant of KMT2C (Q8NEZ4)
P36S (p.Pro36Ser) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
P36S (p.Pro36Ser) variant details
- p.Pro36Ser
- gnomAD rs1212580747
- Missense
- REVEL 0.47
- CADD 24.10
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3.3e-05)