M39I (p.Met39Ile) variant of RIT1 (GTP-binding protein Rit1)
M39I (p.Met39Ile) 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 0.56 / 1. The record also includes population frequency data and structural context.
M39I (p.Met39Ile) variant details
- p.Met39Ile
- rs748634085
- ClinGen CA1151882
- ClinVar RCV004517221
- ExAC rs748634085
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.45
- CADD 21.70
- PolyPhen-2 0.35
- SIFT 0.93
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available