N26Y (p.Asn26Tyr) variant of KRAS (GTPase KRas)
N26Y (p.Asn26Tyr) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N26Y (p.Asn26Tyr) variant details
- p.Asn26Tyr
- rs794727277
- ClinGen CA241569
- cosmic curated COSV56197
- ClinVar RCV000175794
- Uncertain significance
- not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.85
- AlphaMissense 0.84
- MetaLR 0.75
- MetaSVM 0.73
- CADD 29.10
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.404