V57A (p.Val57Ala) variant of SLC4A1 (Band 3 anion transport protein)
V57A (p.Val57Ala) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
V57A (p.Val57Ala) variant details
- p.Val57Ala
- Ensembl rs2047437768
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.07
- CADD 18.30
- PolyPhen-2 0.10
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available