C12Y (p.Cys12Tyr) variant of RIT1 (GTP-binding protein Rit1)
C12Y (p.Cys12Tyr) in RIT1 (GTP-binding protein Rit1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Noonan syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
C12Y (p.Cys12Tyr) variant details
- p.Cys12Tyr
- rs1177306699
- ClinGen CA342776452
- ClinVar RCV001905488
- ClinVar RCV005472951
- Conflicting interpretations
- Cardiovascular phenotype; Noonan syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.08
- CADD 15.30
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Noonan syndrome 8)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)