A65T (p.Ala65Thr) variant of BACH2 (Q9BYV9)
A65T (p.Ala65Thr) in BACH2 (Q9BYV9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
A65T (p.Ala65Thr) variant details
- p.Ala65Thr
- gnomAD rs1777540345
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.19
- CADD 22.20
- Most common in the African/African-American population (allele frequency 2.4e-05)