K4E (p.Lys4Glu) variant of RB1 (P06400)
K4E (p.Lys4Glu) 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 population frequency data, published literature, and structural context.
K4E (p.Lys4Glu) variant details
- p.Lys4Glu
- rs2542093127
- ClinGen CA2697551896
- ClinVar RCV003514661
- Uncertain significance
- Retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.56
- MetaLR 0.76
- MetaSVM 0.53
- CADD 27.20
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Uncertain significance (Retinoblastoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- 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)