A2V (p.Ala2Val) variant of FHL1 (Q13642)
A2V (p.Ala2Val) in FHL1 (Q13642) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs146125558
- ClinGen CA10524948
- NCI-TCGA Cosmic COSV6177
- cosmic curated COSV61779
- Conflicting interpretations
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- AlphaMissense 0.23
- MetaLR 0.19
- MetaSVM -0.55
- PolyPhen-2 0.82
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score 0.422
- 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)