E46K (p.Glu46Lys) variant of ASH1L (Q9NR48)
E46K (p.Glu46Lys) 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.
E46K (p.Glu46Lys) variant details
- p.Glu46Lys
- NCI-TCGA Cosmic COSV6421
- cosmic curated COSV64210
- Variant assessed as somatic; moderate impact.
- Missense
- REVEL 0.44
- CADD 23.60
- PolyPhen-2 0.09
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)