A40E (p.Ala40Glu) variant of COL3A1 (Collagen alpha-1(III) chain)
A40E (p.Ala40Glu) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
A40E (p.Ala40Glu) variant details
- p.Ala40Glu
- 1000Genomes rs201380807
- ExAC rs201380807
- TOPMed rs201380807
- gnomAD rs201380807
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.07
- MetaLR 0.19
- MetaSVM -0.87
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available