G795E (p.Gly795Glu) variant of COL4A3 (Collagen alpha-3(IV) chain)
G795E (p.Gly795Glu) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G795E (p.Gly795Glu) variant details
- p.Gly795Glu
- rs2469758704
- ClinGen CA350849372
- ClinVar RCV003991284
- ClinVar RCV005030369
- Likely pathogenic
- Autosomal dominant Alport syndrome; Alport syndrome 3b, autosomal recessive; Hem
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.98
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal dominant Alport syndrome; Alport syndrome 3b, autosoma)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)