D38A (p.Asp38Ala) variant of SLC4A1 (Band 3 anion transport protein)
D38A (p.Asp38Ala) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; not provided; Hereditary spherocytosis type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
D38A (p.Asp38Ala) variant details
- p.Asp38Ala
- rs5035
- ClinGen CA8600706
- cosmic curated COSV52259
- ClinVar RCV000242676
- Benign
- not specified; not provided; Hereditary spherocytosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.0833
- REVEL 0.09
- CADD 1.16
- PolyPhen-2 0.00
- SIFT 0.75
- ClinVar: Benign (not specified; not provided; Hereditary spherocytosis type 4)
- EBI: Benign (in dbSNP:rs5035)
- UniProt: Benign (in dbSNP:rs5035)
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 0.5)
- Structural context available
- Cited in: Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population. (PMID 10745622)
- Cited in: Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutations. (PMID 16252102)