V6A (p.Val6Ala) variant of EED (Polycomb protein EED)
V6A (p.Val6Ala) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
V6A (p.Val6Ala) variant details
- p.Val6Ala
- rs752828124
- ClinGen CA6216287
- ClinVar RCV002038071
- ExAC rs752828124
- Uncertain significance
- Cohen-Gibson syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.19
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Uncertain significance (Cohen-Gibson syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: EED-Related Overgrowth. (PMID 30973693)