G1143R (p.Gly1143Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
G1143R (p.Gly1143Arg) 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; Alport syndrome 3b, autosomal recessive; Hem. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G1143R (p.Gly1143Arg) variant details
- p.Gly1143Arg
- rs1489682011
- ClinGen CA350858690
- ClinVar RCV005029975
- ClinVar RCV005252148
- Likely pathogenic
- Autosomal dominant Alport syndrome; Alport syndrome 3b, autosomal recessive; Hem
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.89
- CADD 28.10
- PolyPhen-2 0.53
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal dominant Alport syndrome; Alport syndrome 3b, autosoma)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)