P11L (p.Pro11Leu) variant of PMS2 (P54278)
P11L (p.Pro11Leu) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P11L (p.Pro11Leu) variant details
- p.Pro11Leu
- rs1291217267
- ClinGen CA366745188
- cosmic curated COSV10455
- ClinVar RCV000781735
- Conflicting interpretations
- not specified; Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-p
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.33
- CADD 8.92
- PolyPhen-2 0.00
- SIFT 0.78
- ClinVar: Conflicting classifications of pathogenicity (not specified; Hereditary nonpolyposis colorectal neoplasms; Her)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)