N8D (p.Asn8Asp) variant of PAH (Phenylalanine-4-hydroxylase)
N8D (p.Asn8Asp) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
N8D (p.Asn8Asp) variant details
- p.Asn8Asp
- rs763623193
- ClinGen CA6749065
- ClinVar RCV003099019
- ExAC rs763623193
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.52
- CADD 7.14
- PolyPhen-2 0.01
- SIFT 0.57
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)