E10K (p.Glu10Lys) variant of LRRK2 (Q5S007)
E10K (p.Glu10Lys) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E10K (p.Glu10Lys) variant details
- p.Glu10Lys
- rs281865040
- ClinGen CA343525
- NCI-TCGA Cosmic COSV5416
- cosmic curated COSV54164
- Uncertain significance
- Autosomal dominant Parkinson disease 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.21
- MetaLR 0.09
- MetaSVM -1.04
- CADD 24.00
- PolyPhen-2 0.18
- SIFT 0.01
- ClinVar: Uncertain significance (Autosomal dominant Parkinson disease 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Cited in: LRRK2-Related Parkinson Disease. (PMID 20301387)
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)