A15P (p.Ala15Pro) variant of RB1 (P06400)
A15P (p.Ala15Pro) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
A15P (p.Ala15Pro) variant details
- p.Ala15Pro
- rs587778638
- ClinGen CA026457
- ClinVar RCV000121916
- ClinVar RCV004658972
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- AlphaMissense 0.14
- MetaLR 0.52
- MetaSVM -0.62
- PolyPhen-2 0.00
- SIFT 0.57
- MutPred 0.35
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)