E48K (p.Glu48Lys) variant of RIT1 (GTP-binding protein Rit1)
E48K (p.Glu48Lys) in RIT1 (GTP-binding protein Rit1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Noonan syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
E48K (p.Glu48Lys) variant details
- p.Glu48Lys
- TOPMed rs1165493340
- gnomAD rs1165493340
- Uncertain significance
- Noonan syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.53
- CADD 31.00
- PolyPhen-2 0.67
- SIFT 0.01
- ClinVar: Uncertain significance (Noonan syndrome 8)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available