K70N (p.Lys70Asn) variant of FHL1 (Q13642)
K70N (p.Lys70Asn) in FHL1 (Q13642) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of X-linked myopathy with postural muscle atrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
K70N (p.Lys70Asn) variant details
- p.Lys70Asn
- rs2073861633
- ClinGen CA414608001
- ClinVar RCV001298028
- Ensembl rs2073861633
- Uncertain significance
- X-linked myopathy with postural muscle atrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- AlphaMissense 0.87
- MetaLR 0.71
- MetaSVM 0.49
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.55
- ClinVar: Uncertain significance (X-linked myopathy with postural muscle atrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Emery-Dreifuss Muscular Dystrophy. (PMID 20301609)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)