M256T (p.Met256Thr) variant of MAP2K1 (Q02750)
M256T (p.Met256Thr) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardiofaciocutaneous syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M256T (p.Met256Thr) variant details
- p.Met256Thr
- rs1326401609
- ClinGen CA392937094
- NCI-TCGA Cosmic COSV6107
- cosmic curated COSV61073
- Likely pathogenic
- Cardiofaciocutaneous syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.94
- MetaLR 0.81
- MetaSVM 0.79
- CADD 26.10
- PolyPhen-2 0.57
- SIFT 0.00
- ClinVar: Likely pathogenic (Cardiofaciocutaneous syndrome 3)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score -0.508
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)