M46I (p.Met46Ile) variant of CCNE1 (G1/S-specific cyclin-E1)
M46I (p.Met46Ile) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
M46I (p.Met46Ile) variant details
- p.Met46Ile
- gnomAD rs1973930862
- NCI-TCGA Cosmic COSV5290
- cosmic curated COSV52904
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.05
- CADD 11.60
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available