S55G (p.Ser55Gly) variant of KMT2E (Histone reader KMT2E)
S55G (p.Ser55Gly) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S55G (p.Ser55Gly) variant details
- p.Ser55Gly
- TOPMed rs1450060536
- gnomAD rs1450060536
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.32
- CADD 22.50
- PolyPhen-2 0.08
- SIFT 0.15
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available