R31S (p.Arg31Ser) variant of CCNE1 (G1/S-specific cyclin-E1)
R31S (p.Arg31Ser) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R31S (p.Arg31Ser) variant details
- p.Arg31Ser
- gnomAD 19-29812758-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.20
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available