D9G (p.Asp9Gly) variant of CCND2 (G1/S-specific cyclin-D2)
D9G (p.Asp9Gly) in CCND2 (G1/S-specific cyclin-D2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
D9G (p.Asp9Gly) variant details
- p.Asp9Gly
- rs1374564893
- NCI-TCGA Cosmic COSV9971
- TOPMed rs1374564893
- gnomAD rs1374564893
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.22
- MetaLR 0.07
- MetaSVM -1.09
- CADD 27.00
- PolyPhen-2 0.98
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available