P34R (p.Pro34Arg) variant of CYP2B6 (Cytochrome P450 2B6)
P34R (p.Pro34Arg) in CYP2B6 (Cytochrome P450 2B6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P34R (p.Pro34Arg) variant details
- p.Pro34Arg
- gnomAD 19-40991406-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.13
- MetaLR 0.04
- MetaSVM -1.08
- CADD 20.70
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available