I5S (p.Ile5Ser) variant of KMT2E (Histone reader KMT2E)
I5S (p.Ile5Ser) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
I5S (p.Ile5Ser) variant details
- p.Ile5Ser
- ExAC rs748387280
- TOPMed rs748387280
- gnomAD rs748387280
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.84
- CADD 24.50
- PolyPhen-2 0.05
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available