T2A (p.Thr2Ala) variant of NRAS (GTPase NRas)
T2A (p.Thr2Ala) in NRAS (GTPase NRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes structural context.
T2A (p.Thr2Ala) variant details
- p.Thr2Ala
- rs1310992906
- ClinGen CA341742845
- ClinVar RCV003038929
- gnomAD rs1310992906
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- AlphaMissense 0.30
- MetaLR 0.08
- MetaSVM -1.02
- PolyPhen-2 0.03
- SIFT 0.08
- MutPred 0.19
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available