D181N (p.Asp181Asn) variant of EZH1 (Q92800)
D181N (p.Asp181Asn) in EZH1 (Q92800) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
D181N (p.Asp181Asn) variant details
- p.Asp181Asn
- rs541410310
- ClinGen CA8582964
- cosmic curated COSV10133
- ClinVar RCV004302585
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.26
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:HAN population (allele frequency 0.03)
- Structural context available