D6H (p.Asp6His) variant of KMT2C (Q8NEZ4)
D6H (p.Asp6His) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
D6H (p.Asp6His) variant details
- p.Asp6His
- Ensembl rs2116822090
- Missense
- REVEL 0.40
- CADD 24.60
- PolyPhen-2 0.96
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 3.8e-05)