K32Q (p.Lys32Gln) variant of COL1A2 (Collagen alpha-2(I) chain)
K32Q (p.Lys32Gln) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
K32Q (p.Lys32Gln) variant details
- p.Lys32Gln
- gnomAD 7-94398394-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.33
- CADD 23.60
- PolyPhen-2 0.66
- SIFT 0.82
- Population evidence available
- Structural context available
- Literature evidence available