K32M (p.Lys32Met) variant of COL1A2 (Collagen alpha-2(I) chain)
K32M (p.Lys32Met) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
K32M (p.Lys32Met) variant details
- p.Lys32Met
- gnomAD 7-94398395-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.59
- CADD 32.00
- PolyPhen-2 0.91
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available