N56S (p.Asn56Ser) variant of LDB3 (LIM domain-binding protein 3)
N56S (p.Asn56Ser) in LDB3 (LIM domain-binding protein 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype; Myofibrillar myopathy 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N56S (p.Asn56Ser) variant details
- p.Asn56Ser
- rs751482077
- ClinGen CA5584605
- ClinVar RCV001214500
- ClinVar RCV004726972
- Uncertain significance
- not provided; Cardiovascular phenotype; Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.09
- CADD 18.10
- PolyPhen-2 0.02
- SIFT 0.34
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype; Myofibrillar myopathy 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0329