D38N (p.Asp38Asn) variant of SLC4A1 (Band 3 anion transport protein)
D38N (p.Asp38Asn) 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; BLOOD GROUP--SWANN SYSTEM; BLOOD GROUP, WALDNER. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
D38N (p.Asp38Asn) variant details
- p.Asp38Asn
- ESP rs149644876
- ExAC rs149644876
- TOPMed rs149644876
- gnomAD rs149644876
- Uncertain significance
- Hereditary spherocytosis type 4; BLOOD GROUP--SWANN SYSTEM; BLOOD GROUP, WALDNER
- Missense
- Variant Prioritization Score for Impact Estimate 0.0795
- REVEL 0.09
- CADD 0.69
- PolyPhen-2 0.01
- SIFT 0.53
- ClinVar: Uncertain significance (Hereditary spherocytosis type 4; BLOOD GROUP--SWANN SYSTEM; BLOO)
- EBI: Variant of uncertain significance (in dbSNP:rs5035)
- UniProt: Uncertain significance (in dbSNP:rs5035)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available