S116N (p.Ser116Asn) variant of CDKN1C (P49918)
S116N (p.Ser116Asn) in CDKN1C (P49918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
S116N (p.Ser116Asn) variant details
- p.Ser116Asn
- gnomAD 11-2884031-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- MetaLR 0.77
- MetaSVM 0.65
- CADD 14.30
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available