N26H (p.Asn26His) variant of KRAS (GTPase KRas)
N26H (p.Asn26His) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Noonan syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes experimental measurements, published literature, and structural context.
N26H (p.Asn26His) variant details
- p.Asn26His
- rs794727277
- ClinGen CA384157332
- ClinVar RCV001808080
- Ensembl rs794727277
- Uncertain significance
- Noonan syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- AlphaMissense 0.84
- MetaLR 0.75
- MetaSVM 0.73
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Uncertain significance (Noonan syndrome 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.404
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)