N61D (p.Asn61Asp) variant of PAH (Phenylalanine-4-hydroxylase)
N61D (p.Asn61Asp) 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 0.66 / 1. The record also includes published literature and structural context.
N61D (p.Asn61Asp) variant details
- p.Asn61Asp
- rs199475651
- ClinGen CA229470
- ClinVar RCV000088859
- ClinVar RCV001389299
- Pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- AlphaMissense 0.37
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 0.03
- SIFT 0.03
- EVE 0.22
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Structural context available
- Cited in: Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. (PMID 12501224)
- Cited in: Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild… (PMID 10200057)