D53N (p.Asp53Asn) variant of LDB3 (LIM domain-binding protein 3)
D53N (p.Asp53Asn) 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; Myofibrillar myopathy 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D53N (p.Asp53Asn) variant details
- p.Asp53Asn
- rs2132360328
- ClinGen CA377451254
- ClinVar RCV001768447
- ClinVar RCV001882855
- Uncertain significance
- not provided; Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.32
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.15
- ClinVar: Uncertain significance (not provided; Myofibrillar myopathy 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.49