S25F (p.Ser25Phe) variant of COL4A4 (Collagen alpha-4(IV) chain)
S25F (p.Ser25Phe) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
S25F (p.Ser25Phe) variant details
- p.Ser25Phe
- rs1963408223
- gnomAD 2-227010434-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- CADD 8.91
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available