T8A (p.Thr8Ala) variant of EED (Polycomb protein EED)
T8A (p.Thr8Ala) in EED (Polycomb protein EED) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
T8A (p.Thr8Ala) variant details
- p.Thr8Ala
- gnomAD 11-86245251-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.17
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.76
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available