D43V (p.Asp43Val) variant of CCNE1 (G1/S-specific cyclin-E1)
D43V (p.Asp43Val) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
D43V (p.Asp43Val) variant details
- p.Asp43Val
- ExAC rs765951124
- gnomAD rs765951124
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.37
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available