A14G (p.Ala14Gly) variant of COL1A2 (Collagen alpha-2(I) chain)
A14G (p.Ala14Gly) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
A14G (p.Ala14Gly) variant details
- p.Ala14Gly
- gnomAD 7-94395072-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.57
- CADD 23.20
- PolyPhen-2 0.43
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available