R80H (p.Arg80His) variant of SLC4A1 (Band 3 anion transport protein)
R80H (p.Arg80His) 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 0.30 / 1. The record also includes population frequency data and structural context.
R80H (p.Arg80His) variant details
- p.Arg80His
- rs372860708
- ClinGen CA8600657
- NCI-TCGA Cosmic COSV5225
- cosmic curated COSV52258
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.41
- CADD 11.40
- PolyPhen-2 0.69
- SIFT 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available