A78V (p.Ala78Val) variant of SLC4A1 (Band 3 anion transport protein)
A78V (p.Ala78Val) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A78V (p.Ala78Val) variant details
- p.Ala78Val
- rs186542577
- ClinGen CA8600662
- cosmic curated COSV52258
- ClinVar RCV001507389
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.19
- CADD 8.09
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available