R107W (p.Arg107Trp) variant of CDKN1C (P49918)
R107W (p.Arg107Trp) in CDKN1C (P49918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R107W (p.Arg107Trp) variant details
- p.Arg107Trp
- rs1469017919
- gnomAD 11-2883875-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- CADD 18.90
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available