I65S (p.Ile65Ser) variant of PAH (Phenylalanine-4-hydroxylase)
I65S (p.Ile65Ser) 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 0.95 / 1. The record also includes published literature and structural context.
I65S (p.Ile65Ser) variant details
- p.Ile65Ser
- rs75193786
- ClinGen CA229480
- ClinVar RCV000088866
- ClinVar RCV005606647
- Pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.955
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- 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: Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability. (PMID 18538294)