D165N (p.Asp165Asn) variant of BACH2 (Q9BYV9)
D165N (p.Asp165Asn) in BACH2 (Q9BYV9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
D165N (p.Asp165Asn) variant details
- p.Asp165Asn
- ExAC rs762461351
- gnomAD rs762461351
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.09
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the South Asian population (allele frequency 0.00021)