S54F (p.Ser54Phe) variant of CYP2B6 (Cytochrome P450 2B6)
S54F (p.Ser54Phe) 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 and structural context.
S54F (p.Ser54Phe) variant details
- p.Ser54Phe
- cosmic curated COSV10518
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.19
- MetaLR 0.48
- MetaSVM -0.50
- CADD 19.70
- PolyPhen-2 0.98
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available