G56D (p.Gly56Asp) variant of CYP3A4 (Cytochrome P450 3A4)
G56D (p.Gly56Asp) in CYP3A4 (Cytochrome P450 3A4) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in allele CYP3A4*7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
G56D (p.Gly56Asp) variant details
- p.Gly56Asp
- rs56324128
- UniProt VAR 011598
- 1000Genomes rs56324128
- ESP rs56324128
- Benign
- in allele CYP3A4*7
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Benign (in allele CYP3A4*7)
- UniProt: Benign (in allele CYP3A4*7)
- Most common in the HGDP:RUSSIAN population (allele frequency 0.02)
- Structural context available
- Cited in: Identification and functional characterization of eight CYP3A4 protein variants. (PMID 11470997)