A14G (p.Ala14Gly) variant of PMS2 (P54278)
A14G (p.Ala14Gly) 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; not provided; Hereditary cancer-pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A14G (p.Ala14Gly) variant details
- p.Ala14Gly
- rs750524554
- ClinGen CA366745169
- ClinVar RCV000630105
- ClinVar RCV002331106
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; not provided; Hereditary cancer-pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.43
- AlphaMissense 0.10
- MetaLR 0.57
- MetaSVM 0.05
- CADD 24.80
- PolyPhen-2 0.13
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; not provided; Here)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)