S124A (p.Ser124Ala) variant of BACH2 (Q9BYV9)
S124A (p.Ser124Ala) in BACH2 (Q9BYV9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
S124A (p.Ser124Ala) variant details
- p.Ser124Ala
- gnomAD rs1473047103
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.41
- CADD 26.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)