A148T (p.Ala148Thr) variant of BACH2 (Q9BYV9)
A148T (p.Ala148Thr) in BACH2 (Q9BYV9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data.
A148T (p.Ala148Thr) variant details
- p.Ala148Thr
- TOPMed rs956897586
- gnomAD rs956897586
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.09
- CADD 8.74
- PolyPhen-2 0.00
- SIFT 0.68
- Most common in the African/African-American population (allele frequency 3e-05)