R5G (p.Arg5Gly) variant of CCNE1 (G1/S-specific cyclin-E1)
R5G (p.Arg5Gly) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
R5G (p.Arg5Gly) variant details
- p.Arg5Gly
- gnomAD 19-29812568-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.07
- CADD 26.70
- PolyPhen-2 0.03
- SIFT 0.01
- Most common in the South Asian population (allele frequency 2.7e-05)
- Structural context available
- Literature evidence available