T9R (p.Thr9Arg) variant of RB1 (P06400)
T9R (p.Thr9Arg) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
T9R (p.Thr9Arg) variant details
- p.Thr9Arg
- rs1952051803
- ClinGen CA388250182
- ClinVar RCV001351756
- Ensembl rs1952051803
- Uncertain significance
- Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.09
- MetaLR 0.47
- MetaSVM -0.65
- CADD 13.00
- PolyPhen-2 0.02
- SIFT 0.59
- ClinVar: Uncertain significance (Retinoblastoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-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)