S23I (p.Ser23Ile) variant of PAH (Phenylalanine-4-hydroxylase)
S23I (p.Ser23Ile) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
S23I (p.Ser23Ile) variant details
- p.Ser23Ile
- NCI-TCGA Cosmic COSV6101
- cosmic curated COSV61014
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.62
- MetaLR 0.89
- MetaSVM 0.93
- CADD 19.80
- PolyPhen-2 0.04
- SIFT 0.30
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available