S8R (p.Ser8Arg) variant of PMS2 (P54278)
S8R (p.Ser8Arg) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary nonpolyposis colorectal neoplasms. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes structural context.
S8R (p.Ser8Arg) variant details
- p.Ser8Arg
- rs1554306620
- Ensembl rs1554306620
- ClinGen CA366745204
- ClinVar RCV003760945
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- AlphaMissense 0.27
- MetaLR 0.62
- MetaSVM 0.02
- PolyPhen-2 0.95
- SIFT 0.01
- MutPred 0.28
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available