R34Q (p.Arg34Gln) variant of SPTA1 (P02549)
R34Q (p.Arg34Gln) in SPTA1 (P02549) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in EL2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
R34Q (p.Arg34Gln) variant details
- p.Arg34Gln
- cosmic curated COSV63748
- 1000Genomes rs567686069
- ExAC rs567686069
- TOPMed rs567686069
- Likely pathogenic
- in EL2
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- CADD 23.60
- PolyPhen-2 0.10
- SIFT 0.02
- EBI: Likely pathogenic (in EL2)
- UniProt: Likely pathogenic (in EL2)
- Most common in the 1KG:PEL population (allele frequency 0.0059)