R24G (p.Arg24Gly) variant of LAMC2 (Laminin subunit gamma-2)
R24G (p.Arg24Gly) in LAMC2 (Laminin subunit gamma-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
R24G (p.Arg24Gly) variant details
- p.Arg24Gly
- ESP rs369305187
- ExAC rs369305187
- TOPMed rs369305187
- gnomAD rs369305187
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0758
- REVEL 0.03
- CADD 9.63
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available