A12V (p.Ala12Val) variant of PMS2 (P54278)
A12V (p.Ala12Val) 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 published literature and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- rs1562702377
- ClinGen CA366745180
- ClinVar RCV000692044
- ClinVar RCV005401574
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- AlphaMissense 0.14
- MetaLR 0.79
- MetaSVM 0.60
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.17
- 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)