R122L (p.Arg122Leu) variant of RIT1 (GTP-binding protein Rit1)
R122L (p.Arg122Leu) in RIT1 (GTP-binding protein Rit1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Noonan syndrome and Noonan-related syndrome; not provided; Megalencephaly-capill. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R122L (p.Arg122Leu) variant details
- p.Arg122Leu
- rs777520196
- ClinGen CA10602738
- NCI-TCGA Cosmic COSV6417
- Pathogenic/Likely pathogenic
- Noonan syndrome and Noonan-related syndrome; not provided; Megalencephaly-capill
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.58
- MetaLR 0.39
- MetaSVM -0.21
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Noonan syndrome and Noonan-related syndrome; not provided; Megal)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: PIK3CA-Related Overgrowth Spectrum. (PMID 23946963)
- Cited in: Noonan Syndrome. (PMID 20301303)