V23L (p.Val23Leu) variant of PMS2 (P54278)
V23L (p.Val23Leu) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
V23L (p.Val23Leu) variant details
- p.Val23Leu
- rs374830220
- ClinGen CA050868
- ClinVar RCV001177036
- ClinVar RCV002559714
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.73
- AlphaMissense 0.72
- MetaLR 0.83
- MetaSVM 0.80
- CADD 25.30
- PolyPhen-2 0.98
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)