N72T (p.Asn72Thr) variant of BACH2 (Q9BYV9)
N72T (p.Asn72Thr) in BACH2 (Q9BYV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
N72T (p.Asn72Thr) variant details
- p.Asn72Thr
- rs1777538231
- ClinGen CA365068978
- ClinVar RCV003431957
- Ensembl rs1777538231
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.15
- CADD 21.70
- PolyPhen-2 0.15
- SIFT 0.50
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)