N87K (p.Asn87Lys) variant of SLC4A1 (Band 3 anion transport protein)
N87K (p.Asn87Lys) 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; Autosomal dominant distal renal tubular acidosi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
N87K (p.Asn87Lys) variant details
- p.Asn87Lys
- rs761763084
- ClinGen CA399796191
- ClinVar RCV001124760
- ClinVar RCV001125745
- Uncertain significance
- Hereditary spherocytosis type 4; Autosomal dominant distal renal tubular acidosi
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.42
- CADD 24.00
- PolyPhen-2 0.90
- SIFT 0.02
- ClinVar: Uncertain significance (Hereditary spherocytosis type 4; Autosomal dominant distal renal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)