S127A (p.Ser127Ala) variant of SLC4A1 (Band 3 anion transport protein)
S127A (p.Ser127Ala) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S127A (p.Ser127Ala) variant details
- p.Ser127Ala
- TOPMed rs1265248505
- gnomAD rs1265248505
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.31
- CADD 19.30
- PolyPhen-2 0.21
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available