M37V (p.Met37Val) variant of RIT1 (GTP-binding protein Rit1)
M37V (p.Met37Val) in RIT1 (GTP-binding protein Rit1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Noonan syndrome 8. The record also includes variant effect predictions, population frequency data, and structural context.
M37V (p.Met37Val) variant details
- p.Met37Val
- Ensembl rs1557962700
- Uncertain significance
- Noonan syndrome 8
- Missense
- SIFT 1.00
- ClinVar: Uncertain significance (Noonan syndrome 8)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available