A8V (p.Ala8Val) variant of CYP3A5 (Cytochrome P450 3A5)
A8V (p.Ala8Val) 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 0.32 / 1. The record also includes population frequency data and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- rs369170873
- ClinGen CA4368833
- cosmic curated COSV10455
- ClinVar RCV004300145
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.04
- CADD 19.70
- PolyPhen-2 0.16
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available