N152S (p.Asn152Ser) variant of EZH1 (Q92800)
N152S (p.Asn152Ser) 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 0.40 / 1. The record also includes population frequency data and structural context.
N152S (p.Asn152Ser) variant details
- p.Asn152Ser
- rs748670427
- ClinGen CA290777248
- ClinVar RCV004385746
- TOPMed rs748670427
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.33
- CADD 22.10
- PolyPhen-2 0.14
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available