I36T (p.Ile36Thr) variant of NRAS (GTPase NRas)
I36T (p.Ile36Thr) in NRAS (GTPase NRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes structural context.
I36T (p.Ile36Thr) variant details
- p.Ile36Thr
- rs2101743995
- ClinGen CA341742127
- ClinVar RCV002417527
- ClinVar RCV003101066
- Uncertain significance
- Cardiovascular phenotype; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- AlphaMissense 1.00
- MetaLR 0.78
- MetaSVM 0.81
- PolyPhen-2 0.93
- SIFT 0.04
- EVE 0.28
- ClinVar: Uncertain significance (Cardiovascular phenotype; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available