E78D (p.Glu78Asp) variant of PAH (Phenylalanine-4-hydroxylase)
E78D (p.Glu78Asp) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
E78D (p.Glu78Asp) variant details
- p.Glu78Asp
- rs2136701879
- ClinGen CA386304160
- NCI-TCGA Cosmic COSV6101
- cosmic curated COSV61013
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- AlphaMissense 0.60
- MetaLR 0.89
- MetaSVM 0.29
- PolyPhen-2 0.01
- SIFT 0.28
- EVE 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)