L46F (p.Leu46Phe) variant of CYP3A5 (Cytochrome P450 3A5)
L46F (p.Leu46Phe) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
L46F (p.Leu46Phe) variant details
- p.Leu46Phe
- rs150999943
- ClinGen CA4368757
- ClinVar RCV004267788
- ESP rs150999943
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.13
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available