S18F (p.Ser18Phe) variant of COL4A4 (Collagen alpha-4(IV) chain)
S18F (p.Ser18Phe) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
S18F (p.Ser18Phe) variant details
- p.Ser18Phe
- TOPMed rs1472124369
- gnomAD rs1472124369
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.18
- CADD 4.17
- PolyPhen-2 0.01
- SIFT 0.70
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available