G1066D (p.Gly1066Asp) variant of COL4A5 (Collagen alpha-5(IV) chain)
G1066D (p.Gly1066Asp) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
G1066D (p.Gly1066Asp) variant details
- p.Gly1066Asp
- rs104886221
- ClinGen CA413855023
- ClinVar RCV000995521
- ClinVar RCV001288041
- Pathogenic
- not provided; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- AlphaMissense 0.98
- MetaLR 0.65
- MetaSVM 0.59
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic (not provided; X-linked Alport syndrome)
- EBI: Pathogenic (in ATS1)
- UniProt: Pathogenic (in ATS1)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)