D75V (p.Asp75Val) variant of PAH (Phenylalanine-4-hydroxylase)
D75V (p.Asp75Val) 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 0.50 / 1. The record also includes published literature and structural context.
D75V (p.Asp75Val) variant details
- p.Asp75Val
- rs1565866547
- ClinGen CA16020751
- ClinVar RCV000758113
- Ensembl rs1565866547
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- AlphaMissense 0.06
- MetaLR 0.76
- MetaSVM 0.37
- PolyPhen-2 0.00
- SIFT 0.40
- EVE 0.08
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)