G1039D (p.Gly1039Asp) variant of COL4A5 (Collagen alpha-5(IV) chain)
G1039D (p.Gly1039Asp) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes structural context.
G1039D (p.Gly1039Asp) variant details
- p.Gly1039Asp
- rs1556421658
- ClinGen CA413854860
- ClinVar RCV000659175
- Ensembl rs1556421658
- Conflicting interpretations
- not provided; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- AlphaMissense 0.93
- MetaLR 0.71
- MetaSVM 0.77
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Conflicting classifications of pathogenicity (not provided; X-linked Alport syndrome)
- EBI: Variant of uncertain significance (in ATS1)
- UniProt: Uncertain significance (in ATS1)
- Structural context available