R60* (p.Arg60Ter) variant of SPTA1 (P02549)
R60* (p.Arg60Ter) in SPTA1 (P02549) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data.
R60* (p.Arg60Ter) variant details
- p.Arg60Ter
- rs373695294
- ClinGen CA1184242
- cosmic curated COSV63752
- ClinVar RCV001508007
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.901
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)