E21D (p.Glu21Asp) variant of PAH (Phenylalanine-4-hydroxylase)
E21D (p.Glu21Asp) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
E21D (p.Glu21Asp) variant details
- p.Glu21Asp
- rs753466976
- ClinGen CA6749050
- ClinVar RCV001896984
- ExAC rs753466976
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.62
- MetaLR 0.86
- MetaSVM 0.63
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.29
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)