S100C (p.Ser100Cys) variant of CYP3A5 (Cytochrome P450 3A5)
S100C (p.Ser100Cys) in CYP3A5 (Cytochrome P450 3A5) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
S100C (p.Ser100Cys) variant details
- p.Ser100Cys
- 1000Genomes rs41279857
- ESP rs41279857
- ExAC rs41279857
- TOPMed rs41279857
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.36
- CADD 23.20
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available