N38S (p.Asn38Ser) variant of FHL1 (Q13642)
N38S (p.Asn38Ser) in FHL1 (Q13642) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N38S (p.Asn38Ser) variant details
- p.Asn38Ser
- rs886043917
- ClinGen CA10606110
- ClinVar RCV000343087
- ClinVar RCV001202211
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- AlphaMissense 0.20
- MetaLR 0.81
- MetaSVM 0.80
- PolyPhen-2 1.00
- SIFT 0.07
- EVE 0.38
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.649
- 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)