D9Y (p.Asp9Tyr) variant of CCND2 (G1/S-specific cyclin-D2)
D9Y (p.Asp9Tyr) in CCND2 (G1/S-specific cyclin-D2) is a missense change. Clinical records from ClinVar, EBI, 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 0.50 / 1. The record also includes population frequency data and structural context.
D9Y (p.Asp9Tyr) variant details
- p.Asp9Tyr
- rs776260684
- ClinGen CA6395139
- ClinVar RCV003680068
- ExAC rs776260684
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.36
- MetaLR 0.08
- MetaSVM -0.99
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available