P80P (p.Pro80Pro) variant of KMT2E (Histone reader KMT2E)
P80P (p.Pro80Pro) in KMT2E (Histone reader KMT2E) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P80P (p.Pro80Pro) variant details
- p.Pro80Pro
- gnomAD 7-105063404-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.303
- CADD 12.30
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Literature evidence available