S55N (p.Ser55Asn) variant of KMT2E (Histone reader KMT2E)
S55N (p.Ser55Asn) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S55N (p.Ser55Asn) variant details
- p.Ser55Asn
- TOPMed rs1796845005
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.33
- CADD 26.10
- PolyPhen-2 0.87
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available