V654A (p.Val654Ala) variant of RB1 (P06400)
V654A (p.Val654Ala) 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; Retinoblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
V654A (p.Val654Ala) variant details
- p.Val654Ala
- rs769113950
- ClinGen CA033353
- ClinVar RCV000703311
- ClinVar RCV002422584
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.88
- AlphaMissense 0.75
- MetaLR 0.90
- MetaSVM 0.98
- CADD 26.20
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Retinoblastoma)
- EBI: Variant of uncertain significance (in RB)
- UniProt: Uncertain significance (in RB)
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)