H483L (p.His483Leu) variant of RB1 (P06400)
H483L (p.His483Leu) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
H483L (p.His483Leu) variant details
- p.His483Leu
- rs1948522736
- ClinGen CA388162820
- ClinVar RCV002044933
- Ensembl rs1948522736
- Uncertain significance
- Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.96
- MetaLR 0.81
- MetaSVM 0.77
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Retinoblastoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- 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)