Q50R (p.Gln50Arg) variant of MAP2K2 (P36507)
Q50R (p.Gln50Arg) in MAP2K2 (P36507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Noonan syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
Q50R (p.Gln50Arg) variant details
- p.Gln50Arg
- rs1599307416
- ClinGen CA403392807
- ClinVar RCV000824942
- Ensembl rs1599307416
- Likely benign
- Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- AlphaMissense 0.96
- MetaLR 0.82
- MetaSVM 0.75
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.71
- ClinVar: Likely benign (Noonan syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)