T2A (p.Thr2Ala) variant of ATRX (Chromatin remodeler ATRX)
T2A (p.Thr2Ala) in ATRX (Chromatin remodeler ATRX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
T2A (p.Thr2Ala) variant details
- p.Thr2Ala
- Ensembl rs2148995200
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.26
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.27
- Population evidence available
- Structural context available