Q31K (p.Gln31Lys) variant of PAH (Phenylalanine-4-hydroxylase)
Q31K (p.Gln31Lys) in PAH (Phenylalanine-4-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
Q31K (p.Gln31Lys) variant details
- p.Gln31Lys
- Ensembl rs1565873583
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.61
- MetaLR 0.75
- MetaSVM -0.12
- CADD 10.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available