H6Q (p.His6Gln) variant of CCND2 (G1/S-specific cyclin-D2)
H6Q (p.His6Gln) in CCND2 (G1/S-specific cyclin-D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
H6Q (p.His6Gln) variant details
- p.His6Gln
- ExAC rs775161299
- gnomAD rs775161299
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.05
- MetaLR 0.01
- MetaSVM -0.98
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available