R8Q (p.Arg8Gln) variant of CCNE1 (G1/S-specific cyclin-E1)
R8Q (p.Arg8Gln) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R8Q (p.Arg8Gln) variant details
- p.Arg8Gln
- gnomAD rs1284831314
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.07
- CADD 33.00
- PolyPhen-2 0.53
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available