L11S (p.Leu11Ser) variant of PAH (Phenylalanine-4-hydroxylase)
L11S (p.Leu11Ser) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
L11S (p.Leu11Ser) variant details
- p.Leu11Ser
- gnomAD rs1346707834
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.64
- CADD 9.69
- PolyPhen-2 0.00
- SIFT 0.91
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available