L45F (p.Leu45Phe) variant of CDKN1B (P46527)
L45F (p.Leu45Phe) in CDKN1B (P46527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L45F (p.Leu45Phe) variant details
- p.Leu45Phe
- gnomAD 12-12717974-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.39
- MetaLR 0.31
- MetaSVM -0.44
- CADD 22.80
- PolyPhen-2 0.13
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available