V59L (p.Val59Leu) variant of SLC4A1 (Band 3 anion transport protein)
V59L (p.Val59Leu) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
V59L (p.Val59Leu) variant details
- p.Val59Leu
- TOPMed rs2047437641
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.46
- CADD 23.10
- PolyPhen-2 0.10
- SIFT 0.00
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available