K145N (p.Lys145Asn) variant of BACH2 (Q9BYV9)
K145N (p.Lys145Asn) in BACH2 (Q9BYV9) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data.
K145N (p.Lys145Asn) variant details
- p.Lys145Asn
- gnomAD rs1008925614
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.05
- CADD 16.80
- PolyPhen-2 0.11
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)