P108L (p.Pro108Leu) variant of CDKN1C (P49918)
P108L (p.Pro108Leu) in CDKN1C (P49918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P108L (p.Pro108Leu) variant details
- p.Pro108Leu
- rs1848877421
- gnomAD 11-2884055-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- MetaLR 0.39
- MetaSVM -0.65
- CADD 7.65
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available