N195S (p.Asn195Ser) variant of EZH1 (Q92800)
N195S (p.Asn195Ser) 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 0.28 / 1. The record also includes population frequency data and structural context.
N195S (p.Asn195Ser) variant details
- p.Asn195Ser
- rs150955298
- ClinGen CA290776411
- ClinVar RCV004239083
- ESP rs150955298
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.25
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.70
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available