E153V (p.Glu153Val) variant of KRAS (GTPase KRas)
E153V (p.Glu153Val) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Noonan syndrome 3; KRAS-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes experimental measurements, published literature, and structural context.
E153V (p.Glu153Val) variant details
- p.Glu153Val
- rs1592798693
- ClinGen CA384149280
- ClinVar RCV000789016
- ClinVar RCV005225146
- Pathogenic/Likely pathogenic
- Noonan syndrome 3; KRAS-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- AlphaMissense 0.83
- MetaLR 0.42
- MetaSVM -0.34
- PolyPhen-2 0.03
- SIFT 0.01
- EVE 0.39
- ClinVar: Pathogenic/Likely pathogenic (Noonan syndrome 3; KRAS-related disorder)
- EBI: Pathogenic (in CFC2 and NS3)
- UniProt: Pathogenic (in CFC2 and NS3)
- Structural context available
- binding fitness from KRAS-DARPin K27 bindingPCA of KRAS block3: score 0.0305
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)