K53R (p.Lys53Arg) variant of LRRK2 (Q5S007)
K53R (p.Lys53Arg) in LRRK2 (Q5S007) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal dominant Parkinson disease 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
K53R (p.Lys53Arg) variant details
- p.Lys53Arg
- rs202157354
- ClinGen CA6513006
- ClinVar RCV001979694
- ClinVar RCV005925388
- Uncertain significance
- Autosomal dominant Parkinson disease 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.02
- MetaLR 0.06
- MetaSVM -1.06
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.63
- ClinVar: Uncertain significance (Autosomal dominant Parkinson disease 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Cited in: LRRK2-Related Parkinson Disease. (PMID 20301387)
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)