H82N (p.His82Asn) variant of PAH (Phenylalanine-4-hydroxylase)
H82N (p.His82Asn) in PAH (Phenylalanine-4-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
H82N (p.His82Asn) variant details
- p.His82Asn
- ExAC rs769705809
- gnomAD rs769705809
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.50
- MetaLR 0.51
- MetaSVM -0.12
- CADD 1.05
- PolyPhen-2 0.00
- SIFT 0.84
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available