A22T (p.Ala22Thr) variant of CCNE1 (G1/S-specific cyclin-E1)
A22T (p.Ala22Thr) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
A22T (p.Ala22Thr) variant details
- p.Ala22Thr
- rs749045990
- NCI-TCGA Cosmic COSV5290
- ExAC rs749045990
- gnomAD rs749045990
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0561
- REVEL 0.03
- CADD 3.32
- PolyPhen-2 0.00
- SIFT 0.76
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available