K132R (p.Lys132Arg) variant of ASH1L (Q9NR48)
K132R (p.Lys132Arg) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
K132R (p.Lys132Arg) variant details
- p.Lys132Arg
- TOPMed rs1334010226
- gnomAD rs1334010226
- Missense
- REVEL 0.33
- CADD 24.70
- PolyPhen-2 0.65
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 2.4e-05)