K14E (p.Lys14Glu) variant of PAH (Phenylalanine-4-hydroxylase)
K14E (p.Lys14Glu) in PAH (Phenylalanine-4-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
K14E (p.Lys14Glu) variant details
- p.Lys14Glu
- Ensembl rs1878412813
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.61
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available