T5A (p.Thr5Ala) variant of COL5A1 (Collagen alpha-1(V) chain)
T5A (p.Thr5Ala) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
T5A (p.Thr5Ala) variant details
- p.Thr5Ala
- gnomAD 9-134642200-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.28
- MetaLR 0.53
- MetaSVM -0.31
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available