G11C (p.Gly11Cys) variant of COL4A5 (Collagen alpha-5(IV) chain)
G11C (p.Gly11Cys) 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 X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
G11C (p.Gly11Cys) variant details
- p.Gly11Cys
- ESP rs370313574
- TOPMed rs370313574
- gnomAD rs370313574
- Uncertain significance
- X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.23
- MetaLR 0.43
- MetaSVM -0.58
- CADD 21.60
- PolyPhen-2 0.03
- SIFT 0.20
- ClinVar: Uncertain significance (X-linked Alport syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available