E40Q (p.Glu40Gln) variant of SPTA1 (P02549)
E40Q (p.Glu40Gln) in SPTA1 (P02549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data.
E40Q (p.Glu40Gln) variant details
- p.Glu40Gln
- TOPMed rs1166227316
- gnomAD rs1166227316
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)