A25V (p.Ala25Val) variant of ASH1L (Q9NR48)
A25V (p.Ala25Val) 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.
A25V (p.Ala25Val) variant details
- p.Ala25Val
- rs1470664170
- NCI-TCGA Cosmic COSV6421
- cosmic curated COSV64211
- gnomAD rs1470664170
- Variant assessed as somatic; moderate impact.
- Missense
- REVEL 0.29
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.41
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)