G90E (p.Gly90Glu) variant of COL5A2 (Collagen alpha-2(V) chain)
G90E (p.Gly90Glu) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
G90E (p.Gly90Glu) variant details
- p.Gly90Glu
- Ensembl rs1687233947
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.55
- CADD 24.40
- PolyPhen-2 0.94
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available