C143S (p.Cys143Ser) variant of BACH2 (Q9BYV9)
C143S (p.Cys143Ser) in BACH2 (Q9BYV9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
C143S (p.Cys143Ser) variant details
- p.Cys143Ser
- ExAC rs748898352
- gnomAD rs748898352
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.19
- CADD 22.60
- PolyPhen-2 0.75
- SIFT 0.13
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)