W79L (p.Trp79Leu) variant of CDKN1C (P49918)
W79L (p.Trp79Leu) in CDKN1C (P49918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
W79L (p.Trp79Leu) variant details
- p.Trp79Leu
- rs763529383
- gnomAD 11-2884034-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- MetaLR 0.21
- MetaSVM -0.86
- CADD 9.67
- SIFT 0.34
- Most common in the East Asian population (allele frequency 5.4e-05)
- Structural context available
- Literature evidence available