G1083R (p.Gly1083Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
G1083R (p.Gly1083Arg) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Autosomal recessive Alport syndrome; Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
G1083R (p.Gly1083Arg) variant details
- p.Gly1083Arg
- rs2106226509
- ClinGen CA350857369
- ClinVar RCV001837591
- Ensembl rs2106226509
- Conflicting interpretations
- Autosomal recessive Alport syndrome; Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.949
- AlphaMissense 0.82
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Conflicting classifications of pathogenicity (Autosomal recessive Alport syndrome; Alport syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)