P47T (p.Pro47Thr) variant of RIT1 (GTP-binding protein Rit1)
P47T (p.Pro47Thr) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
P47T (p.Pro47Thr) variant details
- p.Pro47Thr
- rs1673568941
- ClinGen CA342775999
- ClinVar RCV003581471
- Uncertain significance
- Noonan syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.45
- CADD 24.50
- PolyPhen-2 0.08
- SIFT 0.41
- ClinVar: Uncertain significance (Noonan syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)