G1264D (p.Gly1264Asp) variant of COL4A5 (Collagen alpha-5(IV) chain)
G1264D (p.Gly1264Asp) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G1264D (p.Gly1264Asp) variant details
- p.Gly1264Asp
- rs2147974770
- ClinGen CA413850042
- ClinVar RCV001780829
- ClinVar RCV003718424
- Likely pathogenic
- not provided; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.93
- AlphaMissense 0.92
- MetaLR 0.65
- MetaSVM 0.59
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (not provided; X-linked Alport syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)