A145T (p.Ala145Thr) variant of LDB3 (LIM domain-binding protein 3)
A145T (p.Ala145Thr) in LDB3 (LIM domain-binding protein 3) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Myofibrillar myopathy 4; Dilated cardiomyopathy 1C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
A145T (p.Ala145Thr) variant details
- p.Ala145Thr
- rs121908333
- Pathogenic/Likely pathogenic
- not provided; Myofibrillar myopathy 4; Dilated cardiomyopathy 1C
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- AlphaMissense 0.97
- MetaLR 0.72
- MetaSVM 0.46
- CADD 25.80
- PolyPhen-2 0.07
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (not provided; Myofibrillar myopathy 4; Dilated cardiomyopathy 1C)
- UniProt: Likely pathogenic (in MFM4)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available