K4R (p.Lys4Arg) variant of RB1 (P06400)
K4R (p.Lys4Arg) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
K4R (p.Lys4Arg) variant details
- p.Lys4Arg
- rs1371181708
- ClinGen CA388250154
- ClinVar RCV001057690
- TOPMed rs1371181708
- Uncertain significance
- Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.42
- MetaLR 0.76
- MetaSVM 0.32
- CADD 24.50
- PolyPhen-2 0.90
- SIFT 0.11
- ClinVar: Uncertain significance (Retinoblastoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)