S2P (p.Ser2Pro) variant of EED (Polycomb protein EED)
S2P (p.Ser2Pro) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
S2P (p.Ser2Pro) variant details
- p.Ser2Pro
- rs745543096
- ClinGen CA6216276
- ClinVar RCV002746438
- ExAC rs745543096
- Uncertain significance
- Cohen-Gibson syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.39
- CADD 23.60
- PolyPhen-2 0.91
- SIFT 0.06
- ClinVar: Uncertain significance (Cohen-Gibson syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Cited in: EED-Related Overgrowth. (PMID 30973693)