K530R (p.Lys530Arg) variant of RB1 (P06400)
K530R (p.Lys530Arg) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinoblastoma; Hereditary retinoblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
K530R (p.Lys530Arg) variant details
- p.Lys530Arg
- rs1948534047
- ClinGen CA388163655
- ClinVar RCV001340617
- ClinVar RCV006555088
- Pathogenic/Likely pathogenic
- Retinoblastoma; Hereditary retinoblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- AlphaMissense 0.31
- MetaLR 0.86
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.40
- ClinVar: Pathogenic/Likely pathogenic (Retinoblastoma; Hereditary retinoblastoma)
- EBI: Pathogenic (in RB)
- UniProt: Pathogenic (in RB)
- Structural context available
- Cited in: Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in… (PMID 7704558)
- Cited in: Twelve novel RB1 gene mutations in patients with hereditary retinoblastoma. Mutations in brief no. 206. Online. (PMID 10671068)