V93L (p.Val93Leu) variant of CYP3A5 (Cytochrome P450 3A5)
V93L (p.Val93Leu) 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 0.45 / 1. The record also includes population frequency data and structural context.
V93L (p.Val93Leu) variant details
- p.Val93Leu
- rs759099183
- ClinGen CA4368701
- ClinVar RCV004099798
- ExAC rs759099183
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.42
- CADD 14.00
- PolyPhen-2 0.41
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available