P17H (p.Pro17His) variant of PMS2 (P54278)
P17H (p.Pro17His) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
P17H (p.Pro17His) variant details
- p.Pro17His
- rs1554306578
- ClinGen CA366745154
- ClinVar RCV000569635
- Ensembl rs1554306578
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- AlphaMissense 0.25
- MetaLR 0.76
- MetaSVM 0.45
- PolyPhen-2 0.48
- SIFT 0.01
- EVE 0.74
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)