P17S (p.Pro17Ser) variant of CCND3 (G1/S-specific cyclin-D3)
P17S (p.Pro17Ser) in CCND3 (G1/S-specific cyclin-D3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P17S (p.Pro17Ser) variant details
- p.Pro17Ser
- ExAC rs769785626
- gnomAD rs769785626
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.05
- CADD 17.60
- PolyPhen-2 0.08
- SIFT 0.58
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available