K17N (p.Lys17Asn) variant of LRRK2 (Q5S007)
K17N (p.Lys17Asn) in LRRK2 (Q5S007) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
K17N (p.Lys17Asn) variant details
- p.Lys17Asn
- rs760489048
- NCI-TCGA Cosmic COSV5414
- cosmic curated COSV54145
- ExAC rs760489048
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.05
- MetaLR 0.09
- MetaSVM -0.83
- CADD 23.50
- PolyPhen-2 0.21
- SIFT 0.04
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available