K34N (p.Lys34Asn) variant of FHL1 (Q13642)
K34N (p.Lys34Asn) 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 0.58 / 1. The record also includes experimental measurements, published literature, and structural context.
K34N (p.Lys34Asn) variant details
- p.Lys34Asn
- rs1265392418
- ClinGen CA414607741
- ClinVar RCV002653481
- Ensembl rs1265392418
- Uncertain significance
- X-linked myopathy with postural muscle atrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- AlphaMissense 0.93
- MetaLR 0.69
- MetaSVM 0.24
- PolyPhen-2 0.99
- SIFT 0.20
- EVE 0.23
- ClinVar: Uncertain significance (X-linked myopathy with postural muscle atrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -1.16
- 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)