A18V (p.Ala18Val) variant of KRAS (GTPase KRas)
A18V (p.Ala18Val) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Noonan syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes experimental measurements, published literature, and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- rs2135806030
- ClinGen CA384157405
- cosmic curated COSV55561
- ClinVar RCV002264903
- Pathogenic
- Noonan syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- AlphaMissense 0.97
- MetaLR 0.75
- MetaSVM 0.69
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic (Noonan syndrome 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.152
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)