G90S (p.Gly90Ser) variant of KMT2E (Histone reader KMT2E)
G90S (p.Gly90Ser) in KMT2E (Histone reader KMT2E) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G90S (p.Gly90Ser) variant details
- p.Gly90Ser
- 1000Genomes rs552851146
- ExAC rs552851146
- TOPMed rs552851146
- gnomAD rs552851146
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.17
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Uncertain significance (not provided; not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available