F53S (p.Phe53Ser) variant of MAP2K1 (Q02750)
F53S (p.Phe53Ser) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
F53S (p.Phe53Ser) variant details
- p.Phe53Ser
- rs121908594
- ClinGen CA279966
- ClinVar RCV000014278
- ClinVar RCV000158002
- Likely pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Likely pathogenic (RASopathy)
- EBI: Pathogenic (in CFC3)
- UniProt: Pathogenic (in CFC3)
- Structural context available
- Cited in: Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. (PMID 16439621)
- Cited in: Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for… (PMID 17981815)