S13* (p.Ser13Ter) variant of PMS1 (PMS1 protein homolog 1)
S13* (p.Ser13Ter) in PMS1 (PMS1 protein homolog 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S13* (p.Ser13Ter) variant details
- p.Ser13Ter
- gnomAD 2-189791847-C-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.743
- CADD 35.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.415
- Literature evidence available