E14V (p.Glu14Val) variant of CDKN1B (P46527)
E14V (p.Glu14Val) in CDKN1B (P46527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
E14V (p.Glu14Val) variant details
- p.Glu14Val
- gnomAD 12-12717880-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.80
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available