S127N (p.Ser127Asn) variant of RB1 (P06400)
S127N (p.Ser127Asn) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hereditary cancer-predisposing syndrome; Retinoblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S127N (p.Ser127Asn) variant details
- p.Ser127Asn
- rs1131690843
- ClinGen CA388252575
- ClinVar RCV000492187
- ClinVar RCV001591131
- Pathogenic/Likely pathogenic
- not provided; Hereditary cancer-predisposing syndrome; Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.10
- AlphaMissense 0.54
- MetaLR 0.50
- MetaSVM 0.00
- CADD 25.90
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary cancer-predisposing syndrome; Retinobla)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)