G11D (p.Gly11Asp) variant of COL4A5 (Collagen alpha-5(IV) chain)
G11D (p.Gly11Asp) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, 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 0.47 / 1. The record also includes population frequency data and structural context.
G11D (p.Gly11Asp) variant details
- p.Gly11Asp
- ExAC rs769068931
- TOPMed rs769068931
- gnomAD rs769068931
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.53
- MetaLR 0.49
- MetaSVM -0.20
- CADD 22.90
- PolyPhen-2 0.69
- SIFT 0.22
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available