P80del (p.Pro80del) variant of KMT2E (Histone reader KMT2E)
P80del (p.Pro80del) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
P80del (p.Pro80del) variant details
- gnomAD 7-105063395-CCCT-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.461
- CADD 18.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available