T85I (p.Thr85Ile) variant of SPTA1 (P02549)
T85I (p.Thr85Ile) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data.
T85I (p.Thr85Ile) variant details
- p.Thr85Ile
- TOPMed rs1290835563
- gnomAD rs1290835563
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- CADD 23.70
- PolyPhen-2 0.80
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)