S70P (p.Ser70Pro) variant of PAH (Phenylalanine-4-hydroxylase)
S70P (p.Ser70Pro) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
S70P (p.Ser70Pro) variant details
- p.Ser70Pro
- rs63048261
- ClinGen CA229488
- ClinVar RCV000088874
- ClinVar RCV002259586
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- AlphaMissense 0.87
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.27
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)