R107C (p.Arg107Cys) variant of CDKN1C (P49918)
R107C (p.Arg107Cys) in CDKN1C (P49918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R107C (p.Arg107Cys) variant details
- p.Arg107Cys
- rs552955353
- gnomAD 11-2883860-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- CADD 17.70
- SIFT 0.03
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available
- Literature evidence available