K123E (p.Lys123Glu) variant of ATRX (Chromatin remodeler ATRX)
K123E (p.Lys123Glu) in ATRX (Chromatin remodeler ATRX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
K123E (p.Lys123Glu) variant details
- p.Lys123Glu
- gnomAD rs1355773607
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.57
- ESM-1b 1.00
- AlphaMissense 0.41
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available