C52F (p.Cys52Phe) variant of COL4A4 (Collagen alpha-4(IV) chain)
C52F (p.Cys52Phe) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
C52F (p.Cys52Phe) variant details
- p.Cys52Phe
- ExAC rs773187959
- TOPMed rs773187959
- gnomAD rs773187959
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.58
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available