W68C (p.Trp68Cys) variant of SPTA1 (P02549)
W68C (p.Trp68Cys) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary spherocytosis type 3; Elliptocytosis 2; Pyropoikilocytosis, hereditar. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data.
W68C (p.Trp68Cys) variant details
- p.Trp68Cys
- rs1655076780
- ClinGen CA343025581
- ClinVar RCV001100510
- ClinVar RCV001100511
- Uncertain significance
- Hereditary spherocytosis type 3; Elliptocytosis 2; Pyropoikilocytosis, hereditar
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary spherocytosis type 3; Elliptocytosis 2; Pyropoikilocy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)