P3A (p.Pro3Ala) variant of RB1 (P06400)
P3A (p.Pro3Ala) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinoblastoma; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
P3A (p.Pro3Ala) variant details
- p.Pro3Ala
- rs2138026983
- ClinGen CA388250144
- ClinVar RCV004525320
- ClinVar RCV005100727
- Uncertain significance
- Retinoblastoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- AlphaMissense 0.11
- MetaLR 0.79
- MetaSVM 0.72
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.34
- ClinVar: Uncertain significance (Retinoblastoma; 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)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)