E11G (p.Glu11Gly) variant of SPTA1 (P02549)
E11G (p.Glu11Gly) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
E11G (p.Glu11Gly) variant details
- p.Glu11Gly
- rs769982359
- ClinGen CA1184270
- ClinVar RCV002013930
- ClinVar RCV004046674
- Conflicting interpretations
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- CADD 24.40
- PolyPhen-2 0.07
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)