P25T (p.Pro25Thr) variant of RB1 (P06400)
P25T (p.Pro25Thr) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P25T (p.Pro25Thr) variant details
- p.Pro25Thr
- rs1566174119
- ClinGen CA388250269
- ClinVar RCV002811374
- Uncertain significance
- Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.20
- MetaLR 0.46
- MetaSVM -0.69
- CADD 6.92
- PolyPhen-2 0.01
- SIFT 0.55
- ClinVar: Uncertain significance (Retinoblastoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)