A40S (p.Ala40Ser) variant of CYP4F2 (Cytochrome P450 4F2)
A40S (p.Ala40Ser) in CYP4F2 (Cytochrome P450 4F2) 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 0.14 / 1. The record also includes population frequency data and structural context.
A40S (p.Ala40Ser) variant details
- p.Ala40Ser
- 1000Genomes rs201106180
- ExAC rs201106180
- TOPMed rs201106180
- gnomAD rs201106180
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.20
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.45
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available