P169S (p.Pro169Ser) variant of CYP3A5 (Cytochrome P450 3A5)
P169S (p.Pro169Ser) 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 0.30 / 1. The record also includes population frequency data and structural context.
P169S (p.Pro169Ser) variant details
- p.Pro169Ser
- rs139951597
- ClinGen CA4368622
- ClinVar RCV004241016
- ESP rs139951597
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.04
- CADD 11.20
- PolyPhen-2 0.02
- SIFT 0.25
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available