D64E (p.Asp64Glu) variant of SPTA1 (P02549)
D64E (p.Asp64Glu) 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; not provided; Hereditary spherocytosis type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
D64E (p.Asp64Glu) variant details
- p.Asp64Glu
- rs200860772
- ClinGen CA1184237
- ClinVar RCV000269779
- ClinVar RCV000327229
- Conflicting interpretations
- Pyropoikilocytosis, hereditary; not provided; Hereditary spherocytosis type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Pyropoikilocytosis, hereditary; not provided; Hereditary spheroc)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YAKUT population (allele frequency 0.02)