D43N (p.Asp43Asn) variant of CCNE1 (G1/S-specific cyclin-E1)
D43N (p.Asp43Asn) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
D43N (p.Asp43Asn) variant details
- p.Asp43Asn
- gnomAD 19-29812984-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.17
- MetaLR 0.31
- MetaSVM -0.57
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available