P24R (p.Pro24Arg) variant of CYP2B6 (Cytochrome P450 2B6)
P24R (p.Pro24Arg) in CYP2B6 (Cytochrome P450 2B6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P24R (p.Pro24Arg) variant details
- p.Pro24Arg
- gnomAD 19-40991376-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.17
- MetaLR 0.20
- MetaSVM -0.80
- CADD 9.56
- PolyPhen-2 0.62
- SIFT 0.65
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available