R92H (p.Arg92His) variant of CDKN1C (P49918)
R92H (p.Arg92His) in CDKN1C (P49918) is a missense 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.
R92H (p.Arg92His) variant details
- p.Arg92His
- rs1554937506
- gnomAD 11-2884106-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- CADD 14.20
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available