P95L (p.Pro95Leu) variant of GCH1 (GTP cyclohydrolase 1)
P95L (p.Pro95Leu) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
P95L (p.Pro95Leu) variant details
- p.Pro95Leu
- rs886042892
- ClinGen CA10604824
- NCI-TCGA Cosmic COSV9958
- cosmic curated COSV99581
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.962
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available