L71V (p.Leu71Val) variant of RIT1 (GTP-binding protein Rit1)
L71V (p.Leu71Val) 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; not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
L71V (p.Leu71Val) variant details
- p.Leu71Val
- rs777167776
- ClinGen CA1151861
- NCI-TCGA Cosmic COSV6417
- cosmic curated COSV64171
- Uncertain significance
- Noonan syndrome 8; not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.79
- MetaLR 0.60
- MetaSVM 0.32
- CADD 24.00
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Uncertain significance (Noonan syndrome 8; not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)