Q22R (p.Gln22Arg) variant of NRAS (GTPase NRas)
Q22R (p.Gln22Arg) 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; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
Q22R (p.Gln22Arg) variant details
- p.Gln22Arg
- rs1570877514
- ClinGen CA341742477
- ClinVar RCV000815786
- ClinVar RCV004777892
- Uncertain significance
- not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.66
- CADD 28.30
- PolyPhen-2 0.65
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available