D33G (p.Asp33Gly) variant of KRAS (GTPase KRas)
D33G (p.Asp33Gly) 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 0.63 / 1. The record also includes experimental measurements and structural context.
D33G (p.Asp33Gly) variant details
- p.Asp33Gly
- rs2135805772
- ClinGen CA384157247
- ClinVar RCV003237173
- ClinVar RCV003655413
- Uncertain significance
- not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- AlphaMissense 1.00
- MetaLR 0.60
- MetaSVM 0.27
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.59
- ClinVar: Uncertain significance (not provided; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.603