N24K (p.Asn24Lys) variant of LDB3 (LIM domain-binding protein 3)
N24K (p.Asn24Lys) 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 Cardiovascular phenotype; not provided; Myofibrillar myopathy 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N24K (p.Asn24Lys) variant details
- p.Asn24Lys
- rs1323002546
- ClinGen CA377448805
- ClinVar RCV000687898
- ClinVar RCV001091334
- Uncertain significance
- Cardiovascular phenotype; not provided; Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.29
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Myofibrillar myopathy 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0733