E130K (p.Glu130Lys) variant of CDKN1C (P49918)
E130K (p.Glu130Lys) in CDKN1C (P49918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E130K (p.Glu130Lys) variant details
- p.Glu130Lys
- rs1363802623
- gnomAD 11-2884005-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- MetaLR 0.48
- MetaSVM -0.18
- CADD 17.40
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available