M39K (p.Met39Lys) variant of RIT1 (GTP-binding protein Rit1)
M39K (p.Met39Lys) 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 0.41 / 1. The record also includes published literature and structural context.
M39K (p.Met39Lys) variant details
- p.Met39Lys
- rs2102590945
- ClinGen CA342776084
- cosmic curated COSV10943
- ClinVar RCV001373704
- Uncertain significance
- Noonan syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- AlphaMissense 0.97
- MetaLR 0.30
- MetaSVM -0.28
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.27
- ClinVar: Uncertain significance (Noonan syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)