M39T (p.Met39Thr) variant of RIT1 (GTP-binding protein Rit1)
M39T (p.Met39Thr) 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; Noonan syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
M39T (p.Met39Thr) variant details
- p.Met39Thr
- rs2102590945
- ClinGen CA342776085
- ClinVar RCV001807974
- ClinVar RCV004040927
- Uncertain significance
- Cardiovascular phenotype; Noonan syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.70
- AlphaMissense 0.97
- MetaLR 0.30
- MetaSVM -0.28
- CADD 26.50
- PolyPhen-2 0.98
- ClinVar: Uncertain significance (Cardiovascular phenotype; 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)