T8N (p.Thr8Asn) variant of LDB3 (LIM domain-binding protein 3)
T8N (p.Thr8Asn) 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 Myofibrillar myopathy 4; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T8N (p.Thr8Asn) variant details
- p.Thr8Asn
- rs1060501317
- ClinGen CA16613180
- ClinVar RCV000462573
- ClinVar RCV000786156
- Uncertain significance
- Myofibrillar myopathy 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.04
- CADD 17.90
- PolyPhen-2 0.01
- SIFT 0.58
- ClinVar: Uncertain significance (Myofibrillar myopathy 4; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score 0.244