G404A (p.Gly404Ala) variant of LRP5 (O75197)
G404A (p.Gly404Ala) in LRP5 (O75197) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Autosomal dominant osteopetrosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
G404A (p.Gly404Ala) variant details
- p.Gly404Ala
- ExAC rs756503895
- TOPMed rs756503895
- gnomAD rs756503895
- Uncertain significance
- Autosomal dominant osteopetrosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.94
- CADD 25.20
- ClinVar: Uncertain significance (Autosomal dominant osteopetrosis 1)
- UniProt: Uncertain significance (in OPPG)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available