R18H (p.Arg18His) variant of CCND2 (G1/S-specific cyclin-D2)
R18H (p.Arg18His) in CCND2 (G1/S-specific cyclin-D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
R18H (p.Arg18His) variant details
- p.Arg18His
- ExAC rs753037343
- TOPMed rs753037343
- gnomAD rs753037343
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.08
- MetaLR 0.01
- MetaSVM -1.01
- CADD 23.40
- PolyPhen-2 0.12
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available