N61K (p.Asn61Lys) variant of PAH (Phenylalanine-4-hydroxylase)
N61K (p.Asn61Lys) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in PAH deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
N61K (p.Asn61Lys) variant details
- p.Asn61Lys
- rs199475634
- ClinGen CA229471
- ClinVar RCV000088860
- ClinVar RCV001199974
- Pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.81
- MetaLR 0.99
- MetaSVM 1.10
- CADD 22.10
- PolyPhen-2 0.97
- SIFT 0.00
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)