R111H (p.Arg111His) variant of SLC4A1 (Band 3 anion transport protein)
R111H (p.Arg111His) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R111H (p.Arg111His) variant details
- p.Arg111His
- ExAC rs767615788
- TOPMed rs767615788
- gnomAD rs767615788
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.23
- CADD 16.30
- PolyPhen-2 0.10
- SIFT 0.06
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available