E100Q (p.Glu100Gln) variant of SPTA1 (P02549)
E100Q (p.Glu100Gln) in SPTA1 (P02549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data.
E100Q (p.Glu100Gln) variant details
- p.Glu100Gln
- TOPMed rs1222514583
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)