R106T (p.Arg106Thr) variant of SPTA1 (P02549)
R106T (p.Arg106Thr) in SPTA1 (P02549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data.
R106T (p.Arg106Thr) variant details
- p.Arg106Thr
- TOPMed rs961147463
- gnomAD rs961147463
- Missense
- Variant Prioritization Score for Impact Estimate 0.0679
- CADD 0.42
- PolyPhen-2 0.04
- SIFT 0.54
- Most common in the Non-Finnish European population (allele frequency 9e-07)