P13L (p.Pro13Leu) variant of GCH1 (GTP cyclohydrolase 1)
P13L (p.Pro13Leu) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
P13L (p.Pro13Leu) variant details
- p.Pro13Leu
- gnomAD rs2040587239
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.35
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available