S32F (p.Ser32Phe) variant of COL4A4 (Collagen alpha-4(IV) chain)
S32F (p.Ser32Phe) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S32F (p.Ser32Phe) variant details
- p.Ser32Phe
- ESP rs377568944
- ExAC rs377568944
- TOPMed rs377568944
- gnomAD rs377568944
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.55
- CADD 23.80
- PolyPhen-2 0.69
- SIFT 0.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available