P58L (p.Pro58Leu) variant of GCH1 (GTP cyclohydrolase 1)
P58L (p.Pro58Leu) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
P58L (p.Pro58Leu) variant details
- p.Pro58Leu
- gnomAD rs1438904628
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.38
- CADD 24.80
- PolyPhen-2 0.05
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available