N24S (p.Asn24Ser) variant of LRRK2 (Q5S007)
N24S (p.Asn24Ser) in LRRK2 (Q5S007) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Autosomal dominant Parkinson disease 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
N24S (p.Asn24Ser) variant details
- p.Asn24Ser
- rs778678298
- ClinGen CA6512974
- ClinVar RCV002662397
- ClinVar RCV004641997
- Uncertain significance
- Inborn genetic diseases; Autosomal dominant Parkinson disease 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.03
- MetaLR 0.08
- MetaSVM -1.02
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (Inborn genetic diseases; Autosomal dominant Parkinson disease 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Cited in: LRRK2-Related Parkinson Disease. (PMID 20301387)
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)