T131S (p.Thr131Ser) variant of BACH2 (Q9BYV9)
T131S (p.Thr131Ser) in BACH2 (Q9BYV9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data.
T131S (p.Thr131Ser) variant details
- p.Thr131Ser
- gnomAD rs1248228055
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.14
- CADD 22.10
- PolyPhen-2 0.47
- SIFT 0.77
- Most common in the South Asian population (allele frequency 1.2e-05)