D75H (p.Asp75His) variant of PAH (Phenylalanine-4-hydroxylase)
D75H (p.Asp75His) 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 0.55 / 1. The record also includes published literature and structural context.
D75H (p.Asp75His) variant details
- p.Asp75His
- rs767453024
- ClinGen CA386304179
- ClinVar RCV001269068
- ClinVar RCV004526825
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- AlphaMissense 0.07
- MetaLR 0.87
- MetaSVM 0.65
- PolyPhen-2 0.00
- SIFT 0.58
- EVE 0.09
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: PTS-Related Tetrahydrobiopterin Deficiency (PTPSD). (PMID 40638773)
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)