G95R (p.Gly95Arg) variant of SLC4A1 (Band 3 anion transport protein)
G95R (p.Gly95Arg) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; BLOOD GROUP--SWANN SYSTEM; BLOOD GROUP, WALDNER. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
G95R (p.Gly95Arg) variant details
- p.Gly95Arg
- rs1380205574
- ClinGen CA399796062
- ClinVar RCV002047357
- ClinVar RCV002506881
- Uncertain significance
- not provided; BLOOD GROUP--SWANN SYSTEM; BLOOD GROUP, WALDNER
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.82
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; BLOOD GROUP--SWANN SYSTEM; BLOOD GROUP, WALDNER)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)