R4W (p.Arg4Trp) variant of MAP2K2 (P36507)
R4W (p.Arg4Trp) in MAP2K2 (P36507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
R4W (p.Arg4Trp) variant details
- p.Arg4Trp
- rs730880524
- ClinGen CA296188
- ClinVar RCV000158049
- Ensembl rs730880524
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.51
- CADD 26.10
- PolyPhen-2 0.39
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 3.2e-05)
- Structural context available