I57I (p.Ile57Ile) variant of KMT2E (Histone reader KMT2E)
I57I (p.Ile57Ile) in KMT2E (Histone reader KMT2E) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
I57I (p.Ile57Ile) variant details
- p.Ile57Ile
- rs1339983380
- gnomAD 7-105062263-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.406
- CADD 14.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available