K32E (p.Lys32Glu) variant of COL1A2 (Collagen alpha-2(I) chain)
K32E (p.Lys32Glu) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
K32E (p.Lys32Glu) variant details
- p.Lys32Glu
- Ensembl rs879302275
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.35
- CADD 22.60
- PolyPhen-2 0.40
- SIFT 1.00
- Population evidence available
- Structural context available