D41D (p.Asp41Asp) variant of CCNE1 (G1/S-specific cyclin-E1)
D41D (p.Asp41Asp) in CCNE1 (G1/S-specific cyclin-E1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
D41D (p.Asp41Asp) variant details
- p.Asp41Asp
- rs773909135
- gnomAD 19-29812980-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.243
- CADD 13.90
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available
- Literature evidence available