F40F (p.Phe40Phe) variant of COL4A3 (Collagen alpha-3(IV) chain)
F40F (p.Phe40Phe) in COL4A3 (Collagen alpha-3(IV) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
F40F (p.Phe40Phe) variant details
- p.Phe40Phe
- gnomAD 2-227238000-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.392
- CADD 11.60
- Population evidence available
- Structural context available
- Literature evidence available