P69S (p.Pro69Ser) variant of PAH (Phenylalanine-4-hydroxylase)
P69S (p.Pro69Ser) 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 0.69 / 1. The record also includes published literature and structural context.
P69S (p.Pro69Ser) variant details
- p.Pro69Ser
- rs199475678
- ClinGen CA229486
- NCI-TCGA Cosmic COSV6101
- cosmic curated COSV61015
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- AlphaMissense 0.48
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 0.73
- SIFT 0.12
- EVE 0.12
- 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)