N67S (p.Asn67Ser) variant of LDB3 (LIM domain-binding protein 3)
N67S (p.Asn67Ser) 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 specified; not provided; Dilated cardiomyopathy 1C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N67S (p.Asn67Ser) variant details
- p.Asn67Ser
- rs727504500
- ClinGen CA183181
- ClinVar RCV000155638
- ClinVar RCV000766623
- Uncertain significance
- not specified; not provided; Dilated cardiomyopathy 1C
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.39
- CADD 25.70
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; not provided; Dilated cardiomyopathy 1C)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0189
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)