P16A (p.Pro16Ala) variant of KMT2C (Q8NEZ4)
P16A (p.Pro16Ala) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
P16A (p.Pro16Ala) variant details
- p.Pro16Ala
- ExAC rs751297115
- TOPMed rs751297115
- gnomAD rs751297115
- Missense
- REVEL 0.43
- CADD 20.40
- PolyPhen-2 0.81
- SIFT 0.71
- Most common in the African/African-American population (allele frequency 2.4e-05)