V57I (p.Val57Ile) variant of SLC4A1 (Band 3 anion transport protein)
V57I (p.Val57Ile) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
V57I (p.Val57Ile) variant details
- p.Val57Ile
- ExAC rs764706733
- TOPMed rs764706733
- gnomAD rs764706733
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.10
- CADD 17.30
- PolyPhen-2 0.01
- SIFT 0.16
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available