S4N (p.Ser4Asn) variant of LDB3 (LIM domain-binding protein 3)
S4N (p.Ser4Asn) in LDB3 (LIM domain-binding protein 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; Myofibrillar myopathy 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S4N (p.Ser4Asn) variant details
- p.Ser4Asn
- rs766405051
- ClinGen CA5584560
- ClinVar RCV001536972
- ClinVar RCV001873806
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.03
- CADD 22.80
- PolyPhen-2 0.06
- SIFT 0.18
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Myofibrillar myopathy 4)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0755