D9H (p.Asp9His) variant of CCND2 (G1/S-specific cyclin-D2)
D9H (p.Asp9His) in CCND2 (G1/S-specific cyclin-D2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
D9H (p.Asp9His) variant details
- p.Asp9His
- ExAC rs776260684
- gnomAD rs776260684
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.24
- MetaLR 0.08
- MetaSVM -1.01
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available