G97R (p.Gly97Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
G97R (p.Gly97Arg) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Alport syndrome; Autosomal dominant Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
G97R (p.Gly97Arg) variant details
- p.Gly97Arg
- rs1381056489
- NCI-TCGA Cosmic COSV1011
- gnomAD rs1381056489
- Likely pathogenic
- Alport syndrome; Autosomal dominant Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.81
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Alport syndrome; Autosomal dominant Alport syndrome)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available