A19G (p.Ala19Gly) variant of MAP2K1 (Q02750)
A19G (p.Ala19Gly) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Melorheostosis; Cardiofaciocutaneous syndrome 3; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A19G (p.Ala19Gly) variant details
- p.Ala19Gly
- rs727504413
- ClinGen CA181038
- ClinVar RCV000154603
- ClinVar RCV000819149
- Uncertain significance
- Melorheostosis; Cardiofaciocutaneous syndrome 3; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.29
- MetaLR 0.61
- MetaSVM -0.03
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (Melorheostosis; Cardiofaciocutaneous syndrome 3; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00019)
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score 0.944
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)