P23S (p.Pro23Ser) variant of RB1 (P06400)
P23S (p.Pro23Ser) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P23S (p.Pro23Ser) variant details
- p.Pro23Ser
- rs1349657979
- ClinGen CA388250258
- ClinVar RCV001036984
- ClinVar RCV004818195
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.25
- MetaLR 0.49
- MetaSVM -0.51
- CADD 12.00
- PolyPhen-2 0.18
- SIFT 0.42
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Retinoblastoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Retinoblastoma. (PMID 20301625)