K156N (p.Lys156Asn) variant of C9ORF72 (Q96LT7)
K156N (p.Lys156Asn) in C9ORF72 (Q96LT7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of C9orf72-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
K156N (p.Lys156Asn) variant details
- p.Lys156Asn
- rs770077991
- ExAC rs770077991
- TOPMed rs770077991
- gnomAD rs770077991
- Likely benign
- C9orf72-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.08
- CADD 22.70
- PolyPhen-2 0.98
- SIFT 0.40
- ClinVar: Likely benign (C9orf72-related disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available