M39V (p.Met39Val) variant of RIT1 (GTP-binding protein Rit1)
M39V (p.Met39Val) 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 Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
M39V (p.Met39Val) variant details
- p.Met39Val
- rs769298435
- ClinGen CA1151883
- ClinVar RCV002373186
- ExAC rs769298435
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.36
- CADD 22.10
- PolyPhen-2 0.11
- SIFT 0.56
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available