T14A (p.Thr14Ala) variant of KMT2E (Histone reader KMT2E)
T14A (p.Thr14Ala) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
T14A (p.Thr14Ala) variant details
- p.Thr14Ala
- gnomAD 7-105040992-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.21
- CADD 18.90
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available