E11D (p.Glu11Asp) variant of SPTA1 (P02549)
E11D (p.Glu11Asp) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Pyropoikilocytosis, hereditary; Elliptocytosis 2; Hereditary spherocytosis type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data.
E11D (p.Glu11Asp) variant details
- p.Glu11Asp
- rs41273533
- ClinGen CA1184269
- ClinVar RCV000756695
- ClinVar RCV001098793
- Conflicting interpretations
- Pyropoikilocytosis, hereditary; Elliptocytosis 2; Hereditary spherocytosis type
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- CADD 7.62
- PolyPhen-2 0.00
- SIFT 0.47
- ClinVar: Conflicting classifications of pathogenicity (Pyropoikilocytosis, hereditary; Elliptocytosis 2; Hereditary sph)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:ORCADIAN population (allele frequency 0.071)