L687P (p.Leu687Pro) variant of SLC4A1 (Band 3 anion transport protein)
L687P (p.Leu687Pro) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cryohydrocytosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
L687P (p.Leu687Pro) variant details
- p.Leu687Pro
- rs863225463
- ClinGen CA215057
- ClinVar RCV000202408
- UniProt VAR 039293
- Pathogenic
- Cryohydrocytosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.93
- MetaLR 0.76
- MetaSVM 0.71
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Cryohydrocytosis)
- EBI: Pathogenic (in CHC)
- UniProt: Pathogenic (in CHC)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A variant of hereditary stomatocytosis with marked pseudohyperkalaemia. (PMID 10050708)
- Cited in: Four pedigrees of the cation-leaky hereditary stomatocytosis class presenting with pseudohyperkalaemia. Novel profile… (PMID 15142123)