A47G (p.Ala47Gly) variant of CCNE1 (G1/S-specific cyclin-E1)
A47G (p.Ala47Gly) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A47G (p.Ala47Gly) variant details
- p.Ala47Gly
- gnomAD 19-29812997-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.06
- MetaLR 0.17
- MetaSVM -0.75
- CADD 26.20
- PolyPhen-2 0.45
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available