A858D (p.Ala858Asp) variant of SLC4A1 (Band 3 anion transport protein)
A858D (p.Ala858Asp) 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 Autosomal dominant distal renal tubular acidosis; BLOOD GROUP--SWANN SYSTEM; BLO. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
A858D (p.Ala858Asp) variant details
- p.Ala858Asp
- rs121912751
- ClinGen CA127396
- ClinVar RCV000019348
- ClinVar RCV000761459
- Pathogenic/Likely pathogenic
- Autosomal dominant distal renal tubular acidosis; BLOOD GROUP--SWANN SYSTEM; BLO
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.70
- CADD 26.10
- PolyPhen-2 0.77
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant distal renal tubular acidosis; BLOOD GROUP--S)
- EBI: Pathogenic (in DRTA1)
- UniProt: Pathogenic (in DRTA1)
- Most common in the HGDP:PATHAN population (allele frequency 0.021)
- Structural context available
- Cited in: Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up… (PMID 10926824)
- Cited in: Impaired trafficking and intracellular retention of mutant kidney anion exchanger 1 proteins (G701D and A858D)… (PMID 20151848)