F156L (p.Phe156Leu) variant of HRAS (GTPase HRas)
F156L (p.Phe156Leu) in HRAS (GTPase HRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Costello syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes structural context.
F156L (p.Phe156Leu) variant details
- p.Phe156Leu
- rs770648642
- ExAC rs770648642
- gnomAD rs770648642
- ClinGen CA378921198
- Pathogenic
- Costello syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- AlphaMissense 1.00
- MetaLR 0.72
- MetaSVM 0.35
- PolyPhen-2 0.95
- SIFT 0.00
- EVE 0.54
- ClinVar: Pathogenic (Costello syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available