K96E (p.Lys96Glu) variant of ATRX (Chromatin remodeler ATRX)
K96E (p.Lys96Glu) in ATRX (Chromatin remodeler ATRX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
K96E (p.Lys96Glu) variant details
- p.Lys96Glu
- gnomAD rs1557149991
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 19.30
- PolyPhen-2 0.11
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available