P47L (p.Pro47Leu) variant of RIT1 (GTP-binding protein Rit1)
P47L (p.Pro47Leu) 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 not specified; Noonan syndrome 8; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
P47L (p.Pro47Leu) variant details
- p.Pro47Leu
- rs747376042
- ClinGen CA1151879
- cosmic curated COSV10085
- ClinVar RCV001044625
- Uncertain significance
- not specified; Noonan syndrome 8; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.42
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (not specified; Noonan syndrome 8; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)