E49D (p.Glu49Asp) variant of COL4A5 (Collagen alpha-5(IV) chain)
E49D (p.Glu49Asp) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
E49D (p.Glu49Asp) variant details
- p.Glu49Asp
- rs2147722129
- Ensembl rs2147722129
- ClinGen CA413913839
- ClinVar RCV001881270
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.23
- MetaLR 0.54
- MetaSVM -0.53
- CADD 14.60
- PolyPhen-2 0.03
- SIFT 0.21
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available