V8A (p.Val8Ala) variant of RIT1 (GTP-binding protein Rit1)
V8A (p.Val8Ala) 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 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
V8A (p.Val8Ala) variant details
- p.Val8Ala
- rs977203137
- ClinGen CA342776508
- ClinVar RCV003740770
- ClinVar RCV003909118
- Uncertain significance
- Noonan syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.0508
- REVEL 0.04
- CADD 0.15
- PolyPhen-2 0.00
- SIFT 0.78
- ClinVar: Uncertain significance (Noonan syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)