Q102* (p.Gln102Ter) variant of SPTA1 (P02549)
Q102* (p.Gln102Ter) in SPTA1 (P02549) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
Q102* (p.Gln102Ter) variant details
- p.Gln102Ter
- gnomAD rs1467867283
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.523
- CADD 34.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)