T21I (p.Thr21Ile) variant of COL4A4 (Collagen alpha-4(IV) chain)
T21I (p.Thr21Ile) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
T21I (p.Thr21Ile) variant details
- p.Thr21Ile
- rs2149743323
- gnomAD 2-227010317-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- CADD 8.39
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available