R99P (p.Arg99Pro) variant of CDKN1C (P49918)
R99P (p.Arg99Pro) in CDKN1C (P49918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R99P (p.Arg99Pro) variant details
- p.Arg99Pro
- rs373252940
- gnomAD 11-2884094-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- CADD 8.34
- Most common in the REMAINING population (allele frequency 5.2e-05)
- Structural context available
- Literature evidence available