P20T (p.Pro20Thr) variant of RB1 (P06400)
P20T (p.Pro20Thr) 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 0.36 / 1. The record also includes population frequency data and structural context.
P20T (p.Pro20Thr) variant details
- p.Pro20Thr
- TOPMed rs1297224382
- gnomAD rs1297224382
- Uncertain significance
- Retinoblastoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.33
- MetaLR 0.66
- MetaSVM -0.02
- CADD 23.00
- PolyPhen-2 0.98
- SIFT 0.20
- ClinVar: Uncertain significance (Retinoblastoma; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available