P52L (p.Pro52Leu) variant of SLC4A1 (Band 3 anion transport protein)
P52L (p.Pro52Leu) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
P52L (p.Pro52Leu) variant details
- p.Pro52Leu
- ExAC rs751216460
- TOPMed rs751216460
- gnomAD rs751216460
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.06
- CADD 4.86
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available