A51V (p.Ala51Val) variant of KMT2C (Q8NEZ4)
A51V (p.Ala51Val) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
A51V (p.Ala51Val) variant details
- p.Ala51Val
- gnomAD rs1232164733
- Missense
- REVEL 0.17
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the African/African-American population (allele frequency 9.7e-05)