R148C (p.Arg148Cys) variant of MAPK1 (P28482)
R148C (p.Arg148Cys) in MAPK1 (P28482) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R148C (p.Arg148Cys) variant details
- p.Arg148Cys
- NCI-TCGA Cosmic COSV5318
- NCI-TCGA Cosmic COSV9930
- cosmic curated COSV99308
- TOPMed rs2069135521
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.64
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- MAP1K ETP: score 8.92