S15P (p.Ser15Pro) variant of KMT2E (Histone reader KMT2E)
S15P (p.Ser15Pro) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S15P (p.Ser15Pro) variant details
- p.Ser15Pro
- ExAC rs775235409
- TOPMed rs775235409
- gnomAD rs775235409
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.27
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available