S87N (p.Ser87Asn) variant of PAH (Phenylalanine-4-hydroxylase)
S87N (p.Ser87Asn) in PAH (Phenylalanine-4-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
S87N (p.Ser87Asn) variant details
- p.Ser87Asn
- ESP rs368152528
- TOPMed rs368152528
- gnomAD rs368152528
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.51
- MetaLR 0.86
- MetaSVM 0.60
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.71
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available