G95S (p.Gly95Ser) variant of SLC4A1 (Band 3 anion transport protein)
G95S (p.Gly95Ser) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G95S (p.Gly95Ser) variant details
- p.Gly95Ser
- gnomAD rs1380205574
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.33
- CADD 21.20
- PolyPhen-2 0.40
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.4e-05)
- Structural context available