R6P (p.Arg6Pro) variant of RIT1 (GTP-binding protein Rit1)
R6P (p.Arg6Pro) in RIT1 (GTP-binding protein Rit1) is a missense change. Clinical records from ClinVar, EBI, 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R6P (p.Arg6Pro) variant details
- p.Arg6Pro
- rs1255067143
- ClinGen CA342776536
- ClinVar RCV002586590
- TOPMed rs1255067143
- Uncertain significance
- Noonan syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.24
- CADD 23.00
- PolyPhen-2 0.08
- SIFT 0.06
- ClinVar: Uncertain significance (Noonan syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)