A20D (p.Ala20Asp) variant of KMT2E (Histone reader KMT2E)
A20D (p.Ala20Asp) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
A20D (p.Ala20Asp) variant details
- p.Ala20Asp
- gnomAD 7-105041011-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.72
- CADD 24.20
- PolyPhen-2 0.33
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available