R31Q (p.Arg31Gln) variant of LDB3 (LIM domain-binding protein 3)
R31Q (p.Arg31Gln) 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 Myofibrillar myopathy 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R31Q (p.Arg31Gln) variant details
- p.Arg31Gln
- rs1410128172
- ClinGen CA377448846
- NCI-TCGA Cosmic COSV5395
- cosmic curated COSV53951
- Uncertain significance
- Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.32
- CADD 34.00
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (Myofibrillar myopathy 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00069)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score 0.0075