G128V (p.Gly128Val) variant of CDKN1C (P49918)
G128V (p.Gly128Val) in CDKN1C (P49918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G128V (p.Gly128Val) variant details
- p.Gly128Val
- rs1848860637
- gnomAD 11-2883793-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- CADD 18.10
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Literature evidence available