T5N (p.Thr5Asn) variant of COL4A3 (Collagen alpha-3(IV) chain)
T5N (p.Thr5Asn) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
T5N (p.Thr5Asn) variant details
- p.Thr5Asn
- gnomAD 2-227164740-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.20
- CADD 0.62
- PolyPhen-2 0.02
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available