K127N (p.Lys127Asn) variant of ASH1L (Q9NR48)
K127N (p.Lys127Asn) in ASH1L (Q9NR48) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and population frequency data.
K127N (p.Lys127Asn) variant details
- p.Lys127Asn
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- REVEL 0.35
- CADD 22.70
- PolyPhen-2 0.58
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available