D49H (p.Asp49His) variant of RIT1 (GTP-binding protein Rit1)
D49H (p.Asp49His) 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; Noonan syndrome and Noonan-related syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
D49H (p.Asp49His) variant details
- p.Asp49His
- rs2102590904
- ClinGen CA342775985
- ClinVar RCV001813692
- ClinVar RCV001885298
- Uncertain significance
- Noonan syndrome 8; Noonan syndrome and Noonan-related syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- AlphaMissense 0.86
- MetaLR 0.28
- MetaSVM -0.51
- PolyPhen-2 0.09
- SIFT 0.04
- EVE 0.15
- ClinVar: Uncertain significance (Noonan syndrome 8; Noonan syndrome and Noonan-related syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)