G1185D (p.Gly1185Asp) variant of COL4A5 (Collagen alpha-5(IV) chain)
G1185D (p.Gly1185Asp) 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 X-linked Alport syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
G1185D (p.Gly1185Asp) variant details
- p.Gly1185Asp
- rs2068097992
- ClinGen CA413848008
- ClinVar RCV003019575
- ClinVar RCV003479462
- Conflicting interpretations
- X-linked Alport syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.939
- AlphaMissense 0.82
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.98
- ClinVar: Conflicting classifications of pathogenicity (X-linked Alport syndrome; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)