R8L (p.Arg8Leu) variant of CCNE1 (G1/S-specific cyclin-E1)
R8L (p.Arg8Leu) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R8L (p.Arg8Leu) variant details
- p.Arg8Leu
- gnomAD 19-29812578-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.06
- CADD 33.00
- PolyPhen-2 0.50
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Literature evidence available