P37L (p.Pro37Leu) variant of CYP2A6 (Cytochrome P450 2A6)
P37L (p.Pro37Leu) in CYP2A6 (Cytochrome P450 2A6) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
P37L (p.Pro37Leu) variant details
- p.Pro37Leu
- gnomAD rs1344261054
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.28
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available