G110E (p.Gly110Glu) variant of COL5A2 (Collagen alpha-2(V) chain)
G110E (p.Gly110Glu) in COL5A2 (Collagen alpha-2(V) 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 0.67 / 1. The record also includes population frequency data and structural context.
G110E (p.Gly110Glu) variant details
- p.Gly110Glu
- rs863223501
- ClinGen CA322960
- ClinVar RCV000198454
- Ensembl rs863223501
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- REVEL 0.61
- CADD 33.00
- PolyPhen-2 0.77
- SIFT 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available