S7P (p.Ser7Pro) variant of PMS2 (P54278)
S7P (p.Ser7Pro) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S7P (p.Ser7Pro) variant details
- p.Ser7Pro
- rs1064793232
- ClinGen CA16618548
- ClinVar RCV000482023
- ClinVar RCV001851139
- Conflicting interpretations
- not provided; Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.39
- CADD 4.38
- PolyPhen-2 0.00
- SIFT 0.52
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary nonpolyposis colorectal neoplasms; Here)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)