T20R (p.Thr20Arg) variant of SPTA1 (P02549)
T20R (p.Thr20Arg) in SPTA1 (P02549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data.
T20R (p.Thr20Arg) variant details
- p.Thr20Arg
- TOPMed rs1655094628
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- CADD 24.60
- PolyPhen-2 0.68
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)