A123E (p.Ala123Glu) variant of CDKN1C (P49918)
A123E (p.Ala123Glu) in CDKN1C (P49918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A123E (p.Ala123Glu) variant details
- p.Ala123Glu
- gnomAD 11-2884019-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- MetaLR 0.36
- MetaSVM -0.48
- CADD 14.70
- SIFT 0.35
- Population evidence available
- Structural context available
- Literature evidence available