C100Y (p.Cys100Tyr) variant of CDKN1C (P49918)
C100Y (p.Cys100Tyr) in CDKN1C (P49918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
C100Y (p.Cys100Tyr) variant details
- p.Cys100Tyr
- gnomAD 11-2884010-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- MetaLR 0.65
- MetaSVM 0.33
- CADD 15.40
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available