K30R (p.Lys30Arg) variant of CCNE1 (G1/S-specific cyclin-E1)
K30R (p.Lys30Arg) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
K30R (p.Lys30Arg) variant details
- p.Lys30Arg
- gnomAD rs1205916639
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.23
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available