N120T (p.Asn120Thr) variant of BACH2 (Q9BYV9)
N120T (p.Asn120Thr) in BACH2 (Q9BYV9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
N120T (p.Asn120Thr) variant details
- p.Asn120Thr
- cosmic curated COSV57602
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.47
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)