C20S (p.Cys20Ser) variant of BACH2 (Q9BYV9)
C20S (p.Cys20Ser) in BACH2 (Q9BYV9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
C20S (p.Cys20Ser) variant details
- p.Cys20Ser
- Ensembl rs1777547310
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.34
- CADD 23.10
- PolyPhen-2 0.99
- SIFT 0.58
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)