A14S (p.Ala14Ser) variant of PMS2 (P54278)
A14S (p.Ala14Ser) 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; PMS2-related disorder; Hereditary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A14S (p.Ala14Ser) variant details
- p.Ala14Ser
- rs876661039
- ClinGen CA10577359
- ClinVar RCV000218140
- ClinVar RCV000536772
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; PMS2-related disorder; Hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.46
- AlphaMissense 0.09
- MetaLR 0.63
- MetaSVM -0.02
- CADD 22.40
- PolyPhen-2 0.22
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; PMS2-related disor)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- 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)
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)