P2R (p.Pro2Arg) variant of MAP2K1 (Q02750)
P2R (p.Pro2Arg) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes structural context.
P2R (p.Pro2Arg) variant details
- p.Pro2Arg
- rs2140511591
- ClinGen CA392931435
- ClinVar RCV002796542
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- AlphaMissense 0.18
- MetaLR 0.27
- MetaSVM -0.46
- PolyPhen-2 0.52
- SIFT 0.01
- MutPred 0.30
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available