R107Q (p.Arg107Gln) variant of CDKN1C (P49918)
R107Q (p.Arg107Gln) in CDKN1C (P49918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R107Q (p.Arg107Gln) variant details
- p.Arg107Gln
- rs1848863397
- gnomAD 11-2883874-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- CADD 17.70
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available