V7E (p.Val7Glu) variant of KRAS (GTPase KRas)
V7E (p.Val7Glu) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes experimental measurements and structural context.
V7E (p.Val7Glu) variant details
- p.Val7Glu
- rs2135806346
- ClinGen CA384157507
- ClinVar RCV003230833
- Ensembl rs2135806346
- Likely pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Likely pathogenic (RASopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.421