P89T (p.Pro89Thr) variant of MAP2K1 (Q02750)
P89T (p.Pro89Thr) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
P89T (p.Pro89Thr) variant details
- p.Pro89Thr
- rs1265809314
- ClinGen CA392929555
- ClinVar RCV001730035
- TOPMed rs1265809314
- Likely pathogenic
- Cardiofaciocutaneous syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.63
- AlphaMissense 0.20
- MetaLR 0.75
- MetaSVM 0.31
- CADD 22.10
- PolyPhen-2 0.03
- ClinVar: Likely pathogenic (Cardiofaciocutaneous syndrome 3)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)