R31K (p.Arg31Lys) variant of CCNE1 (G1/S-specific cyclin-E1)
R31K (p.Arg31Lys) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R31K (p.Arg31Lys) variant details
- p.Arg31Lys
- gnomAD 19-29812757-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.23
- CADD 28.10
- PolyPhen-2 0.98
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available