T5P (p.Thr5Pro) variant of RB1 (P06400)
T5P (p.Thr5Pro) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Retinoblastoma; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
T5P (p.Thr5Pro) variant details
- p.Thr5Pro
- rs898303682
- ClinGen CA249842021
- ClinVar RCV000632954
- ClinVar RCV003321697
- Uncertain significance
- not specified; Retinoblastoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.13
- MetaLR 0.45
- MetaSVM -0.58
- CADD 19.00
- PolyPhen-2 0.04
- SIFT 0.44
- ClinVar: Uncertain significance (not specified; Retinoblastoma; Hereditary cancer-predisposing sy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- 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)