P16L (p.Pro16Leu) variant of EED (Polycomb protein EED)
P16L (p.Pro16Leu) in EED (Polycomb protein EED) is a missense change. Clinical records from ClinVar 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 0.52 / 1. The record also includes population frequency data and structural context.
P16L (p.Pro16Leu) variant details
- p.Pro16Leu
- ESP rs371991859
- ExAC rs371991859
- gnomAD rs371991859
- Uncertain significance
- Cohen-Gibson syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.34
- CADD 27.60
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Cohen-Gibson syndrome)
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available