E2139D (p.Glu2139Asp) variant of SPTA1 (P02549)
E2139D (p.Glu2139Asp) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pyropoikilocytosis, hereditary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
E2139D (p.Glu2139Asp) variant details
- p.Glu2139Asp
- rs752114200
- ClinGen CA343018142
- ClinVar RCV000986443
- ExAC rs752114200
- Likely pathogenic
- Pyropoikilocytosis, hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- CADD 30.00
- PolyPhen-2 0.03
- SIFT 0.00
- ClinVar: Likely pathogenic (Pyropoikilocytosis, hereditary)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)