S39F (p.Ser39Phe) variant of COL4A4 (Collagen alpha-4(IV) chain)
S39F (p.Ser39Phe) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S39F (p.Ser39Phe) variant details
- p.Ser39Phe
- gnomAD 2-227010374-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- CADD 8.11
- SIFT 0.68
- Population evidence available
- Structural context available
- Literature evidence available