R86C (p.Arg86Cys) variant of PAH (Phenylalanine-4-hydroxylase)
R86C (p.Arg86Cys) in PAH (Phenylalanine-4-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
R86C (p.Arg86Cys) variant details
- p.Arg86Cys
- ExAC rs768320548
- TOPMed rs768320548
- gnomAD rs768320548
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.61
- MetaLR 0.80
- MetaSVM 0.36
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available