P42Q (p.Pro42Gln) variant of CCNE1 (G1/S-specific cyclin-E1)
P42Q (p.Pro42Gln) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. Clinical records from ClinVar, EBI, 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 0.37 / 1. The record also includes population frequency data and structural context.
P42Q (p.Pro42Gln) variant details
- p.Pro42Gln
- rs146376659
- ClinGen CA9352142
- ClinVar RCV004194689
- ESP rs146376659
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.14
- CADD 24.10
- PolyPhen-2 0.77
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00068)
- Structural context available