G24C (p.Gly24Cys) variant of LRP5 (O75197)
G24C (p.Gly24Cys) in LRP5 (O75197) 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 0.27 / 1. The record also includes population frequency data and structural context.
G24C (p.Gly24Cys) variant details
- p.Gly24Cys
- ExAC rs746511983
- TOPMed rs746511983
- gnomAD rs746511983
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.21
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 6.4e-05)
- Structural context available