V51I (p.Val51Ile) variant of PAH (Phenylalanine-4-hydroxylase)
V51I (p.Val51Ile) in PAH (Phenylalanine-4-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
V51I (p.Val51Ile) variant details
- p.Val51Ile
- ExAC rs772159852
- gnomAD rs772159852
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.53
- MetaLR 0.90
- MetaSVM 0.90
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available