D14H (p.Asp14His) variant of CCNE1 (G1/S-specific cyclin-E1)
D14H (p.Asp14His) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
D14H (p.Asp14His) variant details
- p.Asp14His
- TOPMed rs1973921189
- gnomAD rs1973921189
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.02
- CADD 19.70
- PolyPhen-2 0.06
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available