W75R (p.Trp75Arg) variant of SLC4A1 (Band 3 anion transport protein)
W75R (p.Trp75Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
W75R (p.Trp75Arg) variant details
- p.Trp75Arg
- rs757668165
- ClinGen CA8600665
- ClinVar RCV002797157
- ExAC rs757668165
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.93
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available