K127R (p.Lys127Arg) variant of ASH1L (Q9NR48)
K127R (p.Lys127Arg) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
K127R (p.Lys127Arg) variant details
- p.Lys127Arg
- Ensembl rs1668859350
- Missense
- REVEL 0.30
- CADD 23.20
- PolyPhen-2 0.47
- SIFT 0.09
- Population evidence available