T5N (p.Thr5Asn) variant of COL5A1 (Collagen alpha-1(V) chain)
T5N (p.Thr5Asn) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
T5N (p.Thr5Asn) variant details
- p.Thr5Asn
- gnomAD 9-134642201-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.24
- MetaLR 0.58
- MetaSVM -0.28
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available