R107A (p.Arg107Ala) variant of CDKN1C (P49918)
R107A (p.Arg107Ala) in CDKN1C (P49918) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R107A (p.Arg107Ala) variant details
- p.Arg107Ala
- gnomAD 11-2883863-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.283
- CADD 14.20
- Population evidence available
- Structural context available
- Literature evidence available