L120S (p.Leu120Ser) variant of CYP3A5 (Cytochrome P450 3A5)
L120S (p.Leu120Ser) 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 0.16 / 1. The record also includes population frequency data and structural context.
L120S (p.Leu120Ser) variant details
- p.Leu120Ser
- rs199866223
- ClinGen CA163145269
- ClinVar RCV004125023
- gnomAD rs199866223
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.11
- CADD 9.15
- PolyPhen-2 0.01
- SIFT 0.13
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available