A11T (p.Ala11Thr) variant of NRAS (GTPase NRas)
A11T (p.Ala11Thr) 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 0.55 / 1. The record also includes population frequency data and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- rs1367788342
- ClinGen CA341742696
- NCI-TCGA Cosmic COSV5473
- ClinVar RCV000680636
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.41
- CADD 23.40
- PolyPhen-2 0.09
- SIFT 0.12
- ClinVar: Uncertain significance (RASopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available