T5I (p.Thr5Ile) variant of COL5A1 (Collagen alpha-1(V) chain)
T5I (p.Thr5Ile) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
T5I (p.Thr5Ile) variant details
- p.Thr5Ile
- Ensembl rs587780906
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.36
- CADD 22.50
- PolyPhen-2 0.13
- SIFT 0.17
- Population evidence available
- Structural context available