P18A (p.Pro18Ala) variant of CCND1 (G1/S-specific cyclin-D1)
P18A (p.Pro18Ala) in CCND1 (G1/S-specific cyclin-D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
P18A (p.Pro18Ala) variant details
- p.Pro18Ala
- ExAC rs772857967
- gnomAD rs772857967
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.08
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.64
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available