S29A (p.Ser29Ala) variant of SLC4A1 (Band 3 anion transport protein)
S29A (p.Ser29Ala) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.09 / 1. The record also includes population frequency data and structural context.
S29A (p.Ser29Ala) variant details
- p.Ser29Ala
- TOPMed rs1210511088
- gnomAD rs1210511088
- Conflicting interpretations
- Hereditary spherocytosis type 4; BLOOD GROUP--SWANN SYSTEM; BLOOD GROUP, WALDNER
- Missense
- Variant Prioritization Score for Impact Estimate 0.0854
- REVEL 0.07
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.74
- ClinVar: Conflicting classifications of pathogenicity (Hereditary spherocytosis type 4; BLOOD GROUP--SWANN SYSTEM; BLOO)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available