S28P (p.Ser28Pro) variant of PMS2 (P54278)
S28P (p.Ser28Pro) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
S28P (p.Ser28Pro) variant details
- p.Ser28Pro
- rs587781908
- ClinGen CA012958
- ClinVar RCV000130248
- ClinVar RCV000233273
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.93
- AlphaMissense 0.94
- MetaLR 0.85
- MetaSVM 0.89
- CADD 27.70
- PolyPhen-2 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)