K30Q (p.Lys30Gln) variant of CCNE1 (G1/S-specific cyclin-E1)
K30Q (p.Lys30Gln) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
K30Q (p.Lys30Gln) variant details
- p.Lys30Gln
- gnomAD 19-29812753-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.26
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available