V59E (p.Val59Glu) variant of SLC4A1 (Band 3 anion transport protein)
V59E (p.Val59Glu) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
V59E (p.Val59Glu) variant details
- p.Val59Glu
- rs766170301
- ClinGen CA8600678
- ClinVar RCV003322343
- ExAC rs766170301
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.89
- CADD 28.20
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available