S34I (p.Ser34Ile) variant of PMS2 (P54278)
S34I (p.Ser34Ile) 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; Lynch syndrome; Hereditary nonpolyposis colorectal neoplasms. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
S34I (p.Ser34Ile) variant details
- p.Ser34Ile
- rs370612538
- ClinGen CA009103
- ClinVar RCV000166613
- ClinVar RCV000231923
- Conflicting interpretations
- not provided; Lynch syndrome; Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.73
- AlphaMissense 0.65
- MetaLR 0.92
- MetaSVM 0.99
- CADD 24.10
- PolyPhen-2 0.99
- ClinVar: Conflicting classifications of pathogenicity (not provided; Lynch syndrome; Hereditary nonpolyposis colorectal)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- 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)