L48F (p.Leu48Phe) variant of PAH (Phenylalanine-4-hydroxylase)
L48F (p.Leu48Phe) in PAH (Phenylalanine-4-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
L48F (p.Leu48Phe) variant details
- p.Leu48Phe
- cosmic curated COSV61016
- gnomAD rs1878253594
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.81
- MetaLR 0.99
- MetaSVM 1.07
- CADD 23.60
- SIFT 0.19
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available