H30Y (p.His30Tyr) variant of CYP3A5 (Cytochrome P450 3A5)
H30Y (p.His30Tyr) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
H30Y (p.His30Tyr) variant details
- p.His30Tyr
- rs28383468
- ClinGen CA4368761
- ClinVar RCV003433969
- UniProt VAR 024728
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.07
- CADD 2.40
- PolyPhen-2 0.01
- SIFT 0.76
- ClinVar: Likely benign (not provided)
- EBI: Likely benign (in dbSNP:rs28383468)
- UniProt: Likely benign (in dbSNP:rs28383468)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Genetic variation in eleven phase I drug metabolism genes in an ethnically diverse population. (PMID 15469410)