G637R (p.Gly637Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
G637R (p.Gly637Arg) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal dominant Alport syndrome; not provided; Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
G637R (p.Gly637Arg) variant details
- p.Gly637Arg
- rs761686437
- ClinGen CA350845039
- ClinVar RCV003680224
- ExAC rs761686437
- Likely pathogenic
- Autosomal dominant Alport syndrome; not provided; Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.84
- MetaLR 0.98
- MetaSVM 1.05
- CADD 24.90
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)