I42V (p.Ile42Val) variant of BACH2 (Q9BYV9)
I42V (p.Ile42Val) in BACH2 (Q9BYV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data.
I42V (p.Ile42Val) variant details
- p.Ile42Val
- rs758086634
- ClinGen CA3928230
- ClinVar RCV003872633
- ExAC rs758086634
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.09
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00041)