K5Q (p.Lys5Gln) variant of KRAS (GTPase KRas)
K5Q (p.Lys5Gln) 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 0.78 / 1. The record also includes experimental measurements and structural context.
K5Q (p.Lys5Gln) variant details
- p.Lys5Gln
- rs193929331
- ClinGen CA384157537
- ClinVar RCV002833819
- Likely pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- AlphaMissense 0.99
- MetaLR 0.84
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.42
- ClinVar: Likely pathogenic (RASopathy)
- EBI: Likely pathogenic (in GASC)
- UniProt: Likely pathogenic (in GASC)
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.893