T8I (p.Thr8Ile) variant of SPTA1 (P02549)
T8I (p.Thr8Ile) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar 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 0.30 / 1. The record also includes population frequency data.
T8I (p.Thr8Ile) variant details
- p.Thr8Ile
- cosmic curated COSV10746
- ExAC rs763682137
- TOPMed rs763682137
- gnomAD rs763682137
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00038)