G83A (p.Gly83Ala) variant of COL4A4 (Collagen alpha-4(IV) chain)
G83A (p.Gly83Ala) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
G83A (p.Gly83Ala) variant details
- p.Gly83Ala
- Ensembl rs1559677316
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.93
- AlphaMissense 0.92
- MetaLR 0.99
- MetaSVM 1.01
- CADD 24.80
- PolyPhen-2 1.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available