E46K (p.Glu46Lys) variant of CDKN1B (P46527)
E46K (p.Glu46Lys) in CDKN1B (P46527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E46K (p.Glu46Lys) variant details
- p.Glu46Lys
- gnomAD 12-12717975-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.20
- MetaLR 0.15
- MetaSVM -0.79
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available