N159H (p.Asn159His) variant of CYP3A5 (Cytochrome P450 3A5)
N159H (p.Asn159His) 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 0.29 / 1. The record also includes population frequency data and structural context.
N159H (p.Asn159His) variant details
- p.Asn159His
- rs761517345
- NCI-TCGA Cosmic COSV5611
- ExAC rs761517345
- gnomAD rs761517345
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.16
- CADD 21.80
- PolyPhen-2 0.49
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available