Q92R (p.Gln92Arg) variant of SPTA1 (P02549)
Q92R (p.Gln92Arg) in SPTA1 (P02549) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
Q92R (p.Gln92Arg) variant details
- p.Gln92Arg
- NCI-TCGA Cosmic COSV1009
- cosmic curated COSV10093
- TOPMed rs1654954842
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- CADD 16.40
- PolyPhen-2 0.03
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)