P74S (p.Pro74Ser) variant of FHL1 (Q13642)
P74S (p.Pro74Ser) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
P74S (p.Pro74Ser) variant details
- p.Pro74Ser
- rs774990626
- ClinGen CA414608025
- ClinVar RCV002609074
- ExAC rs774990626
- Uncertain significance
- X-linked myopathy with postural muscle atrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- AlphaMissense 0.14
- MetaLR 0.37
- MetaSVM -0.65
- PolyPhen-2 0.04
- SIFT 1.00
- EVE 0.14
- ClinVar: Uncertain significance (X-linked myopathy with postural muscle atrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)