G48R (p.Gly48Arg) variant of COL4A5 (Collagen alpha-5(IV) chain)
G48R (p.Gly48Arg) 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 X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G48R (p.Gly48Arg) variant details
- p.Gly48Arg
- rs281874669
- ClinVar RCV004594831
- Ensembl rs281874669
- Likely pathogenic
- X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.984
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Likely pathogenic (X-linked Alport syndrome)
- 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)