V8F (p.Val8Phe) variant of RIT1 (GTP-binding protein Rit1)
V8F (p.Val8Phe) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
V8F (p.Val8Phe) variant details
- p.Val8Phe
- rs1193358245
- ClinGen CA342776512
- ClinVar RCV002446313
- ClinVar RCV003741315
- Uncertain significance
- Noonan syndrome 8; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.16
- CADD 9.72
- PolyPhen-2 0.00
- SIFT 0.69
- ClinVar: Uncertain significance (Noonan syndrome 8; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)