S7L (p.Ser7Leu) variant of EED (Polycomb protein EED)
S7L (p.Ser7Leu) in EED (Polycomb protein EED) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S7L (p.Ser7Leu) variant details
- p.Ser7Leu
- ESP rs369888376
- ExAC rs369888376
- TOPMed rs369888376
- gnomAD rs369888376
- Benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.19
- CADD 24.00
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Benign (not specified)
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available