W7C (p.Trp7Cys) variant of COL5A1 (Collagen alpha-1(V) chain)
W7C (p.Trp7Cys) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
W7C (p.Trp7Cys) variant details
- p.Trp7Cys
- gnomAD 9-134642208-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.59
- CADD 29.80
- PolyPhen-2 0.76
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available