N61S (p.Asn61Ser) variant of PAH (Phenylalanine-4-hydroxylase)
N61S (p.Asn61Ser) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in PAH deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
N61S (p.Asn61Ser) variant details
- p.Asn61Ser
- rs2136702181
- ClinGen CA386304246
- ClinVar RCV002029638
- Ensembl rs2136702181
- Likely pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- AlphaMissense 0.08
- MetaLR 0.95
- MetaSVM 1.02
- PolyPhen-2 0.23
- SIFT 0.08
- EVE 0.17
- EBI: Likely pathogenic (in PAH deficiency)
- UniProt: Likely pathogenic (in PAH deficiency)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)