A35T (p.Ala35Thr) variant of COL1A2 (Collagen alpha-2(I) chain)
A35T (p.Ala35Thr) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A35T (p.Ala35Thr) variant details
- p.Ala35Thr
- gnomAD 7-94399055-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.19
- MetaLR 0.56
- MetaSVM -0.44
- CADD 9.46
- PolyPhen-2 0.00
- SIFT 0.69
- Population evidence available
- Structural context available
- Literature evidence available