S67C (p.Ser67Cys) variant of PAH (Phenylalanine-4-hydroxylase)
S67C (p.Ser67Cys) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in PAH deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
S67C (p.Ser67Cys) variant details
- p.Ser67Cys
- rs2136702072
- ClinGen CA386304219
- NCI-TCGA Cosmic COSV6101
- cosmic curated COSV61017
- Uncertain significance
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- AlphaMissense 0.76
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- EBI: Variant of uncertain significance (in PAH deficiency)
- UniProt: Uncertain significance (in PAH deficiency)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)