P28S (p.Pro28Ser) variant of RB1 (P06400)
P28S (p.Pro28Ser) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 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.
P28S (p.Pro28Ser) variant details
- p.Pro28Ser
- rs1020342293
- ClinGen CA249842030
- ClinVar RCV003844847
- TOPMed rs1020342293
- Uncertain significance
- Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.13
- MetaLR 0.38
- MetaSVM -0.38
- CADD 3.26
- PolyPhen-2 0.00
- SIFT 0.67
- ClinVar: Uncertain significance (Retinoblastoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)