R775S (p.Arg775Ser) variant of RB1 (P06400)
R775S (p.Arg775Ser) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Retinoblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
R775S (p.Arg775Ser) variant details
- p.Arg775Ser
- rs2138345066
- Ensembl rs2138345066
- ClinGen CA388167736
- ClinVar RCV003859946
- Likely pathogenic
- Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- AlphaMissense 0.87
- MetaLR 0.66
- MetaSVM 0.40
- PolyPhen-2 0.99
- SIFT 0.02
- EVE 0.45
- ClinVar: Likely pathogenic (Retinoblastoma)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)