G662E (p.Gly662Glu) variant of COL4A3 (Collagen alpha-3(IV) chain)
G662E (p.Gly662Glu) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Alport syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
G662E (p.Gly662Glu) variant details
- p.Gly662Glu
- rs2469723579
- ClinGen CA350846354
- NCI-TCGA Cosmic COSV1011
- ClinVar RCV003441569
- Conflicting interpretations
- Alport syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.93
- MetaLR 0.99
- MetaSVM 0.99
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Alport syndrome; not provided)
- UniProt: Conflicting interpretations
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available