L30R (p.Leu30Arg) variant of CYP2B6 (Cytochrome P450 2B6)
L30R (p.Leu30Arg) in CYP2B6 (Cytochrome P450 2B6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L30R (p.Leu30Arg) variant details
- p.Leu30Arg
- gnomAD 19-40991394-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.14
- MetaLR 0.01
- MetaSVM -0.80
- CADD 22.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available