P15R (p.Pro15Arg) variant of MAP2K1 (Q02750)
P15R (p.Pro15Arg) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiofaciocutaneous syndrome 3; RASopathy. The record also includes variant effect predictions and structural context.
P15R (p.Pro15Arg) variant details
- p.Pro15Arg
- ExAC rs764535990
- gnomAD rs764535990
- Uncertain significance
- Cardiofaciocutaneous syndrome 3; RASopathy
- Missense
- MetaLR 0.64
- MetaSVM 0.31
- SIFT 0.14
- ClinVar: Uncertain significance (Cardiofaciocutaneous syndrome 3; RASopathy)
- UniProt: Uncertain significance
- Structural context available