S9R (p.Ser9Arg) variant of ATRX (Chromatin remodeler ATRX)
S9R (p.Ser9Arg) in ATRX (Chromatin remodeler ATRX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S9R (p.Ser9Arg) variant details
- p.Ser9Arg
- Ensembl rs2148752769
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.89
- CADD 22.90
- PolyPhen-2 0.27
- SIFT 0.00
- Population evidence available
- Structural context available