P25L (p.Pro25Leu) variant of RB1 (P06400)
P25L (p.Pro25Leu) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Retinoblastoma; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P25L (p.Pro25Leu) variant details
- p.Pro25Leu
- rs1593412158
- ClinGen CA388250274
- ClinVar RCV001026505
- ClinVar RCV001862369
- Conflicting interpretations
- Retinoblastoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.22
- MetaLR 0.49
- MetaSVM -0.30
- CADD 8.15
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Conflicting classifications of pathogenicity (Retinoblastoma; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-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)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)