E31K (p.Glu31Lys) variant of ATRX (Chromatin remodeler ATRX)
E31K (p.Glu31Lys) in ATRX (Chromatin remodeler ATRX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- Ensembl rs2148752375
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.35
- CADD 22.60
- PolyPhen-2 0.11
- SIFT 0.25
- Population evidence available
- Structural context available