D88N (p.Asp88Asn) variant of CYP3A5 (Cytochrome P450 3A5)
D88N (p.Asp88Asn) in CYP3A5 (Cytochrome P450 3A5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
D88N (p.Asp88Asn) variant details
- p.Asp88Asn
- rs753861581
- NCI-TCGA Cosmic COSV5612
- cosmic curated COSV56120
- ExAC rs753861581
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.27
- CADD 13.30
- PolyPhen-2 0.01
- SIFT 0.21
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available