V32L (p.Val32Leu) variant of PMS2 (P54278)
V32L (p.Val32Leu) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
V32L (p.Val32Leu) variant details
- p.Val32Leu
- rs977251189
- TOPMed rs977251189
- gnomAD rs977251189
- ClinGen CA16612292
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.67
- CADD 22.70
- PolyPhen-2 0.17
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer. (PMID 17060676)
- Cited in: National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in… (PMID 19042984)