S9F (p.Ser9Phe) variant of BACH2 (Q9BYV9)
S9F (p.Ser9Phe) in BACH2 (Q9BYV9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
S9F (p.Ser9Phe) variant details
- p.Ser9Phe
- gnomAD rs1261481591
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.31
- CADD 26.50
- PolyPhen-2 0.82
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)