S57F (p.Ser57Phe) variant of CYP2A6 (Cytochrome P450 2A6)
S57F (p.Ser57Phe) in CYP2A6 (Cytochrome P450 2A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S57F (p.Ser57Phe) variant details
- p.Ser57Phe
- ExAC rs777933432
- gnomAD rs777933432
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.08
- CADD 21.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available