R107L (p.Arg107Leu) variant of CDKN1C (P49918)
R107L (p.Arg107Leu) in CDKN1C (P49918) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R107L (p.Arg107Leu) variant details
- p.Arg107Leu
- rs1235021375
- gnomAD 11-2883857-AGC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.191
- CADD 15.60
- Most common in the Non-Finnish European population (allele frequency 4.6e-06)
- Structural context available
- Literature evidence available