R86H (p.Arg86His) variant of PAH (Phenylalanine-4-hydroxylase)
R86H (p.Arg86His) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R86H (p.Arg86His) variant details
- p.Arg86His
- rs746603180
- ClinGen CA6748989
- cosmic curated COSV61013
- ClinVar RCV002771129
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.59
- MetaLR 0.64
- MetaSVM -0.04
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)