G53C (p.Gly53Cys) variant of SLC4A1 (Band 3 anion transport protein)
G53C (p.Gly53Cys) 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.
G53C (p.Gly53Cys) variant details
- p.Gly53Cys
- ExAC rs762611304
- gnomAD rs762611304
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.20
- CADD 21.60
- PolyPhen-2 0.71
- SIFT 0.02
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available