A30A (p.Ala30Ala) variant of KMT2E (Histone reader KMT2E)
A30A (p.Ala30Ala) in KMT2E (Histone reader KMT2E) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A30A (p.Ala30Ala) variant details
- p.Ala30Ala
- gnomAD 7-105062182-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.536
- CADD 14.10
- Population evidence available
- Structural context available
- Literature evidence available