P6T (p.Pro6Thr) variant of KMT2E (Histone reader KMT2E)
P6T (p.Pro6Thr) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
P6T (p.Pro6Thr) variant details
- p.Pro6Thr
- gnomAD 7-105040968-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.71
- CADD 22.90
- PolyPhen-2 0.17
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available