H64N (p.His64Asn) variant of PAH (Phenylalanine-4-hydroxylase)
H64N (p.His64Asn) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
H64N (p.His64Asn) variant details
- p.His64Asn
- rs199475569
- ClinGen CA229475
- ClinVar RCV000088862
- ClinVar RCV000758122
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.66
- MetaLR 0.96
- MetaSVM 1.10
- CADD 26.10
- PolyPhen-2 0.97
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)