A30P (p.Ala30Pro) variant of CCND1 (G1/S-specific cyclin-D1)
A30P (p.Ala30Pro) in CCND1 (G1/S-specific cyclin-D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A30P (p.Ala30Pro) variant details
- p.Ala30Pro
- ESP rs2220247
- ExAC rs2220247
- TOPMed rs2220247
- gnomAD rs2220247
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.22
- CADD 27.80
- PolyPhen-2 0.85
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available