F52C (p.Phe52Cys) variant of ZRSR2 (Q15696)
F52C (p.Phe52Cys) in ZRSR2 (Q15696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
F52C (p.Phe52Cys) variant details
- p.Phe52Cys
- ESP rs201893706
- ExAC rs201893706
- TOPMed rs201893706
- gnomAD rs201893706
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.10
- MetaLR 0.39
- MetaSVM -0.73
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 3.8e-05)
- Structural context available