N30H (p.Asn30His) variant of PAH (Phenylalanine-4-hydroxylase)
N30H (p.Asn30His) in PAH (Phenylalanine-4-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
N30H (p.Asn30His) variant details
- p.Asn30His
- TOPMed rs936213897
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.50
- MetaLR 0.74
- MetaSVM 0.23
- CADD 22.00
- PolyPhen-2 0.10
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available