A62A (p.Ala62Ala) variant of KMT2E (Histone reader KMT2E)
A62A (p.Ala62Ala) in KMT2E (Histone reader KMT2E) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
A62A (p.Ala62Ala) variant details
- p.Ala62Ala
- gnomAD 7-105062278-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.746
- CADD 23.80
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available