S50P (p.Ser50Pro) variant of KMT2E (Histone reader KMT2E)
S50P (p.Ser50Pro) 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.
S50P (p.Ser50Pro) variant details
- p.Ser50Pro
- ExAC rs768601012
- TOPMed rs768601012
- gnomAD rs768601012
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.36
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available