A114E (p.Ala114Glu) variant of CDKN1C (P49918)
A114E (p.Ala114Glu) in CDKN1C (P49918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A114E (p.Ala114Glu) variant details
- p.Ala114Glu
- rs377216794
- gnomAD 11-2884046-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- MetaLR 0.19
- MetaSVM -0.76
- CADD 5.14
- SIFT 0.90
- Population evidence available
- Structural context available
- Literature evidence available