R27P (p.Arg27Pro) variant of CCNE1 (G1/S-specific cyclin-E1)
R27P (p.Arg27Pro) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R27P (p.Arg27Pro) variant details
- p.Arg27Pro
- gnomAD 19-29812745-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.19
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available