A20T (p.Ala20Thr) variant of CCND1 (G1/S-specific cyclin-D1)
A20T (p.Ala20Thr) in CCND1 (G1/S-specific cyclin-D1) 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 0.37 / 1. The record also includes population frequency data and structural context.
A20T (p.Ala20Thr) variant details
- p.Ala20Thr
- NCI-TCGA TCGA novel
- Ensembl rs2120080130
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.07
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available