P75L (p.Pro75Leu) variant of CYP2A6 (Cytochrome P450 2A6)
P75L (p.Pro75Leu) in CYP2A6 (Cytochrome P450 2A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
P75L (p.Pro75Leu) variant details
- p.Pro75Leu
- gnomAD rs1326698183
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.07
- CADD 7.07
- PolyPhen-2 0.07
- SIFT 0.21
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available