G1066R (p.Gly1066Arg) variant of COL4A4 (Collagen alpha-4(IV) chain)
G1066R (p.Gly1066Arg) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Alport syndrome; not provided; Autosomal recessive Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes population frequency data, published literature, and structural context.
G1066R (p.Gly1066Arg) variant details
- p.Gly1066Arg
- rs1333536476
- ClinGen CA350838825
- ClinVar RCV001239837
- ClinVar RCV001828942
- Conflicting interpretations
- Alport syndrome; not provided; Autosomal recessive Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- REVEL 0.99
- MetaLR 0.99
- MetaSVM 0.98
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Alport syndrome; not provided; Autosomal recessive Alport syndro)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)