G23A (p.Gly23Ala) variant of KMT2C (Q8NEZ4)
G23A (p.Gly23Ala) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
G23A (p.Gly23Ala) variant details
- p.Gly23Ala
- Ensembl rs2116821658
- Missense
- REVEL 0.36
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 3.4e-05)