A79V (p.Ala79Val) variant of SLC4A1 (Band 3 anion transport protein)
A79V (p.Ala79Val) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
A79V (p.Ala79Val) variant details
- p.Ala79Val
- cosmic curated COSV52258
- ESP rs376688172
- ExAC rs376688172
- TOPMed rs376688172
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.56
- CADD 22.30
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available