C100F (p.Cys100Phe) variant of CDKN1C (P49918)
C100F (p.Cys100Phe) in CDKN1C (P49918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
C100F (p.Cys100Phe) variant details
- p.Cys100Phe
- rs2133779878
- gnomAD 11-2884010-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- MetaLR 0.65
- MetaSVM 0.33
- CADD 14.40
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available