S50T (p.Ser50Thr) variant of KMT2E (Histone reader KMT2E)
S50T (p.Ser50Thr) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S50T (p.Ser50Thr) variant details
- p.Ser50Thr
- ExAC rs768601012
- TOPMed rs768601012
- gnomAD rs768601012
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.31
- CADD 24.60
- PolyPhen-2 0.96
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available