V57L (p.Val57Leu) variant of SLC4A1 (Band 3 anion transport protein)
V57L (p.Val57Leu) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
V57L (p.Val57Leu) variant details
- p.Val57Leu
- ExAC rs764706733
- TOPMed rs764706733
- gnomAD rs764706733
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.11
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available