S39C (p.Ser39Cys) variant of COL4A4 (Collagen alpha-4(IV) chain)
S39C (p.Ser39Cys) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S39C (p.Ser39Cys) variant details
- p.Ser39Cys
- gnomAD 2-227010374-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- CADD 7.59
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available