E134D (p.Glu134Asp) variant of CDKN1C (P49918)
E134D (p.Glu134Asp) in CDKN1C (P49918) 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.
E134D (p.Glu134Asp) variant details
- p.Glu134Asp
- gnomAD 11-2883864-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- CADD 16.10
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available