L85M (p.Leu85Met) variant of CCND3 (G1/S-specific cyclin-D3)
L85M (p.Leu85Met) 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 0.37 / 1. The record also includes population frequency data and structural context.
L85M (p.Leu85Met) variant details
- p.Leu85Met
- rs755858491
- ClinGen CA3804320
- ClinVar RCV004147816
- ExAC rs755858491
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.18
- CADD 21.90
- PolyPhen-2 0.95
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available