P20L (p.Pro20Leu) variant of RB1 (P06400)
P20L (p.Pro20Leu) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
P20L (p.Pro20Leu) variant details
- p.Pro20Leu
- rs587778637
- ClinGen CA026462
- cosmic curated COSV10585
- ClinVar RCV000121915
- Conflicting interpretations
- not specified; not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.63
- MetaLR 0.66
- MetaSVM 0.30
- CADD 24.00
- PolyPhen-2 0.98
- SIFT 0.15
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Hereditary cancer-predisposing synd)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5.8e-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)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)