P11A (p.Pro11Ala) variant of PMS2 (P54278)
P11A (p.Pro11Ala) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P11A (p.Pro11Ala) variant details
- p.Pro11Ala
- rs1554306608
- ClinGen CA366745190
- ClinVar RCV000574232
- ClinVar RCV000706894
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; not provided; Hereditary cancer-pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.26
- AlphaMissense 0.08
- MetaLR 0.43
- MetaSVM -0.66
- CADD 13.10
- PolyPhen-2 0.01
- 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 1.8e-06)
- 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)