P34R (p.Pro34Arg) variant of NRAS (GTPase NRas)
P34R (p.Pro34Arg) in NRAS (GTPase NRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes structural context.
P34R (p.Pro34Arg) variant details
- p.Pro34Arg
- rs397514553
- ClinGen CA341742160
- ClinVar RCV000994077
- Ensembl rs397514553
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- AlphaMissense 1.00
- MetaLR 0.68
- MetaSVM 0.53
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in KNEN)
- UniProt: Pathogenic (in KNEN)
- Structural context available