A148V (p.Ala148Val) variant of BACH2 (Q9BYV9)
A148V (p.Ala148Val) in BACH2 (Q9BYV9) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided; Immunodeficiency 60. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data.
A148V (p.Ala148Val) variant details
- p.Ala148Val
- rs1265099818
- NCI-TCGA Cosmic COSV9999
- cosmic curated COSV99999
- TOPMed rs1265099818
- Uncertain significance
- not provided; Immunodeficiency 60
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.06
- CADD 12.50
- PolyPhen-2 0.03
- SIFT 0.55
- ClinVar: Uncertain significance (not provided; Immunodeficiency 60)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)