S8C (p.Ser8Cys) variant of PMS2 (P54278)
S8C (p.Ser8Cys) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S8C (p.Ser8Cys) variant details
- p.Ser8Cys
- ExAC rs772406975
- TOPMed rs772406975
- gnomAD rs772406975
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.47
- CADD 23.70
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available