Q30P (p.Gln30Pro) variant of PMS2 (P54278)
Q30P (p.Gln30Pro) 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 0.62 / 1. The record also includes published literature and structural context.
Q30P (p.Gln30Pro) variant details
- p.Gln30Pro
- rs56203955
- ClinGen CA153249729
- cosmic curated COSV56151
- ClinVar RCV004509666
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- AlphaMissense 0.83
- MetaLR 0.53
- MetaSVM 0.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- 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)