D75N (p.Asp75Asn) variant of PAH (Phenylalanine-4-hydroxylase)
D75N (p.Asp75Asn) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
D75N (p.Asp75Asn) variant details
- p.Asp75Asn
- rs767453024
- ClinGen CA6748995
- cosmic curated COSV10645
- ClinVar RCV000805522
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.41
- AlphaMissense 0.07
- MetaLR 0.87
- MetaSVM 0.65
- CADD 22.30
- PolyPhen-2 0.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)