A28T (p.Ala28Thr) variant of KMT2D (O14686)
A28T (p.Ala28Thr) in KMT2D (O14686) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A28T (p.Ala28Thr) variant details
- p.Ala28Thr
- ExAC rs781142081
- gnomAD rs781142081
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.36
- MetaLR 0.19
- MetaSVM -0.92
- CADD 7.76
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available