N24I (p.Asn24Ile) variant of LDB3 (LIM domain-binding protein 3)
N24I (p.Asn24Ile) in LDB3 (LIM domain-binding protein 3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Myofibrillar myopathy 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N24I (p.Asn24Ile) variant details
- p.Asn24Ile
- gnomAD rs1351889251
- Uncertain significance
- Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.54
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Myofibrillar myopathy 4)
- 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 -0.0733