Q69H (p.Gln69His) variant of BACH2 (Q9BYV9)
Q69H (p.Gln69His) in BACH2 (Q9BYV9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
Q69H (p.Gln69His) variant details
- p.Gln69His
- cosmic curated COSV57595
- ExAC rs777275715
- gnomAD rs777275715
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.25
- CADD 22.30
- PolyPhen-2 1.00
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 9e-07)