M15R (p.Met15Arg) variant of EED (Polycomb protein EED)
M15R (p.Met15Arg) in EED (Polycomb protein EED) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cohen-Gibson syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
M15R (p.Met15Arg) variant details
- p.Met15Arg
- rs1200518953
- ClinGen CA382061092
- ClinVar RCV001976246
- TOPMed rs1200518953
- Uncertain significance
- Cohen-Gibson syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.30
- CADD 24.40
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (Cohen-Gibson syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: EED-Related Overgrowth. (PMID 30973693)