I69T (p.Ile69Thr) variant of SPTA1 (P02549)
I69T (p.Ile69Thr) in SPTA1 (P02549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
I69T (p.Ile69Thr) variant details
- p.Ile69Thr
- 1000Genomes rs41273531
- ExAC rs41273531
- TOPMed rs41273531
- gnomAD rs41273531
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the 1KG:CEU population (allele frequency 0.0042)