D18N (p.Asp18Asn) variant of CCND3 (G1/S-specific cyclin-D3)
D18N (p.Asp18Asn) in CCND3 (G1/S-specific cyclin-D3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
D18N (p.Asp18Asn) variant details
- p.Asp18Asn
- rs1430025445
- ClinGen CA364098150
- cosmic curated COSV65913
- ClinVar RCV004113642
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.18
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available