D2N (p.Asp2Asn) variant of RIT1 (GTP-binding protein Rit1)
D2N (p.Asp2Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
D2N (p.Asp2Asn) variant details
- p.Asp2Asn
- rs924364497
- ClinGen CA30950977
- ClinVar RCV001879186
- TOPMed rs924364497
- Uncertain significance
- Noonan syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.11
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.68
- ClinVar: Uncertain significance (Noonan syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)