T5N (p.Thr5Asn) variant of RB1 (P06400)
T5N (p.Thr5Asn) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
T5N (p.Thr5Asn) variant details
- p.Thr5Asn
- NCI-TCGA TCGA novel
- cosmic curated COSV57333
- 1000Genomes rs1265159988
- gnomAD rs1265159988
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.08
- MetaLR 0.50
- MetaSVM -0.50
- CADD 13.40
- PolyPhen-2 0.02
- SIFT 0.27
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available