D10V (p.Asp10Val) variant of SLC4A1 (Band 3 anion transport protein)
D10V (p.Asp10Val) 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 0.19 / 1. The record also includes population frequency data and structural context.
D10V (p.Asp10Val) variant details
- p.Asp10Val
- TOPMed rs1199756918
- gnomAD rs1199756918
- Uncertain significance
- Hereditary spherocytosis type 4; BLOOD GROUP--SWANN SYSTEM; BLOOD GROUP, WALDNER
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.13
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (Hereditary spherocytosis type 4; BLOOD GROUP--SWANN SYSTEM; BLOO)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available