G736V (p.Gly736Val) variant of COL4A3 (Collagen alpha-3(IV) chain)
G736V (p.Gly736Val) 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; Benign familial hematuria; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G736V (p.Gly736Val) variant details
- p.Gly736Val
- rs773317939
- ClinGen CA350847909
- ClinVar RCV001089918
- ClinVar RCV001862664
- Likely pathogenic
- Autosomal dominant Alport syndrome; Benign familial hematuria; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.99
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal dominant Alport syndrome; Benign familial hematuria; n)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)