T9P (p.Thr9Pro) variant of RB1 (P06400)
T9P (p.Thr9Pro) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
T9P (p.Thr9Pro) variant details
- p.Thr9Pro
- rs2138027109
- ClinGen CA388250178
- ClinVar RCV004017156
- Ensembl rs2138027109
- Uncertain significance
- Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.17
- MetaLR 0.40
- MetaSVM -0.64
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Uncertain significance (Retinoblastoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-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)