G53D (p.Gly53Asp) variant of SLC4A1 (Band 3 anion transport protein)
G53D (p.Gly53Asp) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
G53D (p.Gly53Asp) variant details
- p.Gly53Asp
- TOPMed rs1343209793
- gnomAD rs1343209793
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.04
- CADD 7.89
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available