N34K (p.Asn34Lys) variant of CCNE1 (G1/S-specific cyclin-E1)
N34K (p.Asn34Lys) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
N34K (p.Asn34Lys) variant details
- p.Asn34Lys
- ExAC rs763083338
- gnomAD rs763083338
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.08
- CADD 24.10
- PolyPhen-2 0.14
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available