M60L (p.Met60Leu) variant of LDB3 (LIM domain-binding protein 3)
M60L (p.Met60Leu) 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 0.47 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M60L (p.Met60Leu) variant details
- p.Met60Leu
- rs747835472
- ExAC rs747835472
- gnomAD rs747835472
- Uncertain significance
- Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.34
- CADD 26.70
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (Myofibrillar myopathy 4)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0725