T11R (p.Thr11Arg) variant of KMT2E (Histone reader KMT2E)
T11R (p.Thr11Arg) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
T11R (p.Thr11Arg) variant details
- p.Thr11Arg
- gnomAD 7-105040984-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.69
- CADD 24.40
- PolyPhen-2 0.58
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available