S100Y (p.Ser100Tyr) variant of CYP3A5 (Cytochrome P450 3A5)
S100Y (p.Ser100Tyr) in CYP3A5 (Cytochrome P450 3A5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of CYP3A5-related disorder. 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.
S100Y (p.Ser100Tyr) variant details
- p.Ser100Tyr
- rs41279857
- ClinGen CA4368696
- ClinVar RCV003906985
- 1000Genomes rs41279857
- Likely benign
- CYP3A5-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.34
- CADD 23.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely benign (CYP3A5-related disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available