L7S (p.Leu7Ser) variant of CYP3A5 (Cytochrome P450 3A5)
L7S (p.Leu7Ser) in CYP3A5 (Cytochrome P450 3A5) is a missense change. Clinical records from ClinVar 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 0.22 / 1. The record also includes population frequency data and structural context.
L7S (p.Leu7Ser) variant details
- p.Leu7Ser
- gnomAD rs1487619260
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.05
- CADD 22.50
- PolyPhen-2 0.76
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available