G128E (p.Gly128Glu) variant of CDKN1C (P49918)
G128E (p.Gly128Glu) in CDKN1C (P49918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
G128E (p.Gly128Glu) variant details
- p.Gly128Glu
- gnomAD 11-2883844-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- CADD 21.40
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.6e-06)
- Structural context available
- Literature evidence available