R80C (p.Arg80Cys) variant of SLC4A1 (Band 3 anion transport protein)
R80C (p.Arg80Cys) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
R80C (p.Arg80Cys) variant details
- p.Arg80Cys
- TOPMed rs199535281
- gnomAD rs199535281
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.61
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available