N103K (p.Asn103Lys) variant of EZH1 (Q92800)
N103K (p.Asn103Lys) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
N103K (p.Asn103Lys) variant details
- p.Asn103Lys
- ExAC rs754390812
- gnomAD rs754390812
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.46
- CADD 22.90
- PolyPhen-2 0.44
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available