P6S (p.Pro6Ser) variant of RB1 (P06400)
P6S (p.Pro6Ser) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided; Retinoblastoma. 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.
P6S (p.Pro6Ser) variant details
- p.Pro6Ser
- rs886043138
- ClinGen CA10605156
- cosmic curated COSV57323
- ClinVar RCV000382603
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.14
- MetaLR 0.52
- MetaSVM -0.48
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Retinobla)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)