T77I (p.Thr77Ile) variant of SPTA1 (P02549)
T77I (p.Thr77Ile) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data.
T77I (p.Thr77Ile) variant details
- p.Thr77Ile
- ESP rs372828197
- ExAC rs372828197
- TOPMed rs372828197
- gnomAD rs372828197
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0491
- CADD 0.03
- PolyPhen-2 0.08
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- UniProt: Conflicting interpretations
- Most common in the African/African-American population (allele frequency 7.2e-05)