G117C (p.Gly117Cys) variant of SLC4A1 (Band 3 anion transport protein)
G117C (p.Gly117Cys) in SLC4A1 (Band 3 anion transport protein) is a missense change. 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.
G117C (p.Gly117Cys) variant details
- p.Gly117Cys
- gnomAD rs1417908221
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.86
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available