L72V (p.Leu72Val) variant of PAH (Phenylalanine-4-hydroxylase)
L72V (p.Leu72Val) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L72V (p.Leu72Val) variant details
- p.Leu72Val
- rs760782775
- ClinGen CA6748997
- ClinVar RCV002627181
- ExAC rs760782775
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.55
- MetaLR 0.86
- MetaSVM 0.32
- CADD 7.35
- PolyPhen-2 0.00
- SIFT 0.34
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00016)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)