H62Y (p.His62Tyr) variant of LDB3 (LIM domain-binding protein 3)
H62Y (p.His62Tyr) 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 0.67 / 1. The record also includes population frequency data, experimental measurements, and structural context.
H62Y (p.His62Tyr) variant details
- p.His62Tyr
- rs779234633
- ClinGen CA5584610
- ClinVar RCV000494440
- ClinVar RCV003766776
- Uncertain significance
- not provided; Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.59
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Myofibrillar myopathy 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0194