P6H (p.Pro6His) variant of RB1 (P06400)
P6H (p.Pro6His) 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 0.56 / 1. The record also includes published literature and structural context.
P6H (p.Pro6His) variant details
- p.Pro6His
- rs755482658
- ClinGen CA388250164
- ClinVar RCV001891978
- ExAC rs755482658
- Uncertain significance
- Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- AlphaMissense 0.19
- MetaLR 0.66
- MetaSVM 0.07
- PolyPhen-2 0.70
- SIFT 0.01
- MutPred 0.28
- ClinVar: Uncertain significance (Retinoblastoma)
- EBI: Likely benign
- UniProt: Likely benign
- 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)