V488M (p.Val488Met) variant of SLC4A1 (Band 3 anion transport protein)
V488M (p.Val488Met) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary spherocytosis type 4; Cryohydrocytosis; Autosomal dominant distal ren. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
V488M (p.Val488Met) variant details
- p.Val488Met
- rs28931584
- ClinGen CA127399
- NCI-TCGA Cosmic COSV5225
- ClinVar RCV000019350
- Pathogenic/Likely pathogenic
- Hereditary spherocytosis type 4; Cryohydrocytosis; Autosomal dominant distal ren
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.63
- MetaLR 0.69
- MetaSVM 0.47
- CADD 23.50
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary spherocytosis type 4; Cryohydrocytosis; Autosomal dom)
- EBI: Pathogenic (in SPH4)
- UniProt: Pathogenic (in SPH4)
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3. (PMID 10942416)
- Cited in: Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis. (PMID 9207478)