M25T (p.Met25Thr) variant of LDB3 (LIM domain-binding protein 3)
M25T (p.Met25Thr) 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 not provided; Myofibrillar myopathy 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M25T (p.Met25Thr) variant details
- p.Met25Thr
- rs1422946564
- ClinGen CA377448812
- ClinVar RCV003047679
- ClinVar RCV005869984
- Uncertain significance
- not provided; Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.49
- CADD 29.60
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Myofibrillar myopathy 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0707