S124P (p.Ser124Pro) variant of BACH2 (Q9BYV9)
S124P (p.Ser124Pro) in BACH2 (Q9BYV9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
S124P (p.Ser124Pro) variant details
- p.Ser124Pro
- gnomAD rs1473047103
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.78
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)