P97L (p.Pro97Leu) variant of SLC4A1 (Band 3 anion transport protein)
P97L (p.Pro97Leu) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary spherocytosis type 4; BLOOD GROUP--SWANN SYSTEM; BLOOD GROUP, WALDNER. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
P97L (p.Pro97Leu) variant details
- p.Pro97Leu
- TOPMed rs879167300
- gnomAD rs879167300
- Uncertain significance
- Hereditary spherocytosis type 4; BLOOD GROUP--SWANN SYSTEM; BLOOD GROUP, WALDNER
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.87
- CADD 25.80
- PolyPhen-2 0.95
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary spherocytosis type 4; BLOOD GROUP--SWANN SYSTEM; BLOO)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available