F79C (p.Phe79Cys) variant of PAH (Phenylalanine-4-hydroxylase)
F79C (p.Phe79Cys) in PAH (Phenylalanine-4-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
F79C (p.Phe79Cys) variant details
- p.Phe79Cys
- gnomAD rs1877431161
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.83
- MetaLR 0.98
- MetaSVM 1.07
- CADD 23.40
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available