A16A (p.Ala16Ala) variant of COL4A5 (Collagen alpha-5(IV) chain)
A16A (p.Ala16Ala) in COL4A5 (Collagen alpha-5(IV) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A16A (p.Ala16Ala) variant details
- p.Ala16Ala
- gnomAD X-108440173-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.414
- CADD 15.20
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available