A49V (p.Ala49Val) variant of FHL1 (Q13642)
A49V (p.Ala49Val) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A49V (p.Ala49Val) variant details
- p.Ala49Val
- rs372301312
- ClinGen CA10524956
- NCI-TCGA Cosmic COSV6177
- cosmic curated COSV61779
- Uncertain significance
- X-linked myopathy with postural muscle atrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- AlphaMissense 0.33
- MetaLR 0.47
- MetaSVM -0.18
- PolyPhen-2 0.56
- SIFT 0.16
- EVE 0.23
- ClinVar: Uncertain significance (X-linked myopathy with postural muscle atrophy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.0239
- 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)