F82L (p.Phe82Leu) variant of RIT1 (GTP-binding protein Rit1)
F82L (p.Phe82Leu) in RIT1 (GTP-binding protein Rit1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype; Noonan syndrome 8; Noonan syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
F82L (p.Phe82Leu) variant details
- p.Phe82Leu
- rs730881014
- ClinGen CA16040628
- cosmic curated COSV64171
- ClinVar RCV000408903
- Pathogenic
- Cardiovascular phenotype; Noonan syndrome 8; Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.76
- MetaLR 0.56
- MetaSVM 0.04
- CADD 22.70
- PolyPhen-2 0.94
- SIFT 0.02
- ClinVar: Pathogenic (Cardiovascular phenotype; Noonan syndrome 8; Noonan syndrome)
- EBI: Pathogenic (in NS8)
- UniProt: Pathogenic (in NS8)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. (PMID 23791108)
- Cited in: Structural basis for LZTR1 recognition of RAS GTPases for degradation. (PMID 40934300)