V32I (p.Val32Ile) variant of PMS2 (P54278)
V32I (p.Val32Ile) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
V32I (p.Val32Ile) variant details
- p.Val32Ile
- rs977251189
- ClinGen CA366745074
- cosmic curated COSV10722
- ClinVar RCV000564962
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.16
- CADD 18.80
- PolyPhen-2 0.03
- SIFT 0.14
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis)
- 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)