T5S (p.Thr5Ser) variant of RB1 (P06400)
T5S (p.Thr5Ser) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 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 and structural context.
T5S (p.Thr5Ser) variant details
- p.Thr5Ser
- 1000Genomes rs1265159988
- gnomAD rs1265159988
- Uncertain significance
- Retinoblastoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.17
- MetaLR 0.34
- MetaSVM -0.68
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Retinoblastoma; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available