D9N (p.Asp9Asn) variant of CCNE1 (G1/S-specific cyclin-E1)
D9N (p.Asp9Asn) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
D9N (p.Asp9Asn) variant details
- p.Asp9Asn
- gnomAD 19-29812690-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.11
- CADD 25.10
- PolyPhen-2 0.11
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available