K32K (p.Lys32Lys) variant of COL1A2 (Collagen alpha-2(I) chain)
K32K (p.Lys32Lys) in COL1A2 (Collagen alpha-2(I) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
K32K (p.Lys32Lys) variant details
- p.Lys32Lys
- gnomAD 7-94398396-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.596
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available