K30N (p.Lys30Asn) variant of CCNE1 (G1/S-specific cyclin-E1)
K30N (p.Lys30Asn) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
K30N (p.Lys30Asn) variant details
- p.Lys30Asn
- gnomAD 19-29812755-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.15
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available