S70F (p.Ser70Phe) variant of PAH (Phenylalanine-4-hydroxylase)
S70F (p.Ser70Phe) 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 0.86 / 1. The record also includes published literature and structural context.
S70F (p.Ser70Phe) variant details
- p.Ser70Phe
- rs1877434368
- ClinGen CA16020747
- ClinVar RCV001269066
- Ensembl rs1877434368
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- AlphaMissense 0.85
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.58
- 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)