A22G (p.Ala22Gly) variant of CCNE1 (G1/S-specific cyclin-E1)
A22G (p.Ala22Gly) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A22G (p.Ala22Gly) variant details
- p.Ala22Gly
- 1000Genomes rs578227778
- TOPMed rs578227778
- gnomAD rs578227778
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.10
- CADD 10.30
- PolyPhen-2 0.04
- SIFT 0.24
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available