C7S (p.Cys7Ser) variant of CCND1 (G1/S-specific cyclin-D1)
C7S (p.Cys7Ser) in CCND1 (G1/S-specific cyclin-D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
C7S (p.Cys7Ser) variant details
- p.Cys7Ser
- gnomAD rs1486252402
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.40
- CADD 28.70
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available