E27V (p.Glu27Val) variant of COL1A2 (Collagen alpha-2(I) chain)
E27V (p.Glu27Val) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
E27V (p.Glu27Val) variant details
- p.Glu27Val
- TOPMed rs1396488676
- gnomAD rs1396488676
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.31
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.20
- Population evidence available
- Structural context available