K30K (p.Lys30Lys) variant of CCNE1 (G1/S-specific cyclin-E1)
K30K (p.Lys30Lys) in CCNE1 (G1/S-specific cyclin-E1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
K30K (p.Lys30Lys) variant details
- p.Lys30Lys
- rs1257543223
- gnomAD 19-29812755-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.671
- CADD 14.60
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available