P20S (p.Pro20Ser) variant of RB1 (P06400)
P20S (p.Pro20Ser) 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; Retinoblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P20S (p.Pro20Ser) variant details
- p.Pro20Ser
- rs1297224382
- ClinGen CA388250242
- ClinVar RCV002355688
- ClinVar RCV004005711
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.29
- MetaLR 0.66
- MetaSVM -0.02
- CADD 21.90
- PolyPhen-2 0.97
- SIFT 0.44
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Retinoblastoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)