S85T (p.Ser85Thr) variant of KMT2E (Histone reader KMT2E)
S85T (p.Ser85Thr) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
S85T (p.Ser85Thr) variant details
- p.Ser85Thr
- gnomAD 7-105063418-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.39
- CADD 23.60
- PolyPhen-2 0.69
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available