G89E (p.Gly89Glu) variant of SPTA1 (P02549)
G89E (p.Gly89Glu) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
G89E (p.Gly89Glu) variant details
- p.Gly89Glu
- rs1557997384
- ClinGen CA343025011
- cosmic curated COSV63758
- ClinVar RCV004465344
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- CADD 23.00
- PolyPhen-2 0.87
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)