A16P (p.Ala16Pro) variant of CYP4F2 (Cytochrome P450 4F2)
A16P (p.Ala16Pro) in CYP4F2 (Cytochrome P450 4F2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of CYP4F2-related disorder. 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.
A16P (p.Ala16Pro) variant details
- p.Ala16Pro
- rs114099324
- ClinGen CA9274179
- ClinVar RCV003969247
- 1000Genomes rs114099324
- Benign
- CYP4F2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.31
- CADD 13.60
- PolyPhen-2 0.47
- SIFT 0.03
- ClinVar: Benign (CYP4F2-related disorder)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available