F156I (p.Phe156Ile) variant of KRAS (GTPase KRas)
F156I (p.Phe156Ile) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Noonan syndrome; Cardio-facio-cutaneous syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes experimental measurements, published literature, and structural context.
F156I (p.Phe156Ile) variant details
- p.Phe156Ile
- rs397517042
- Pathogenic
- Noonan syndrome; Cardio-facio-cutaneous syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- AlphaMissense 0.99
- MetaLR 0.71
- MetaSVM 0.57
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.81
- ClinVar: Pathogenic (Noonan syndrome; Cardio-facio-cutaneous syndrome; not provided)
- UniProt: Pathogenic (in NS3)
- Structural context available
- binding fitness from KRAS-DARPin K27 bindingPCA of KRAS block3: score 0.141
- Literature evidence available