Y152H (p.Tyr152His) variant of CYP3A5 (Cytochrome P450 3A5)
Y152H (p.Tyr152His) in CYP3A5 (Cytochrome P450 3A5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
Y152H (p.Tyr152His) variant details
- p.Tyr152His
- rs752110760
- ClinGen CA4368633
- ClinVar RCV004370474
- ExAC rs752110760
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.13
- CADD 18.10
- PolyPhen-2 0.10
- SIFT 0.26
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available