Q22L (p.Gln22Leu) variant of KRAS (GTPase KRas)
Q22L (p.Gln22Leu) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes experimental measurements and structural context.
Q22L (p.Gln22Leu) variant details
- p.Gln22Leu
- rs727503110
- ClinGen CA296089
- cosmic curated COSV55758
- ClinVar RCV000157947
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- AlphaMissense 0.98
- MetaLR 0.72
- MetaSVM 0.61
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in NS3)
- UniProt: Pathogenic (in NS3)
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.699