D150N (p.Asp150Asn) variant of ASH1L (Q9NR48)
D150N (p.Asp150Asn) 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.
D150N (p.Asp150Asn) variant details
- p.Asp150Asn
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- REVEL 0.26
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)