A65V (p.Ala65Val) variant of BACH2 (Q9BYV9)
A65V (p.Ala65Val) in BACH2 (Q9BYV9) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data.
A65V (p.Ala65Val) variant details
- p.Ala65Val
- rs1250663291
- NCI-TCGA Cosmic COSV1000
- NCI-TCGA Cosmic COSV5758
- cosmic curated COSV57586
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.07
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)