R160C (p.Arg160Cys) variant of ATRX (Chromatin remodeler ATRX)
R160C (p.Arg160Cys) in ATRX (Chromatin remodeler ATRX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
R160C (p.Arg160Cys) variant details
- p.Arg160Cys
- TOPMed rs2072039368
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.73
- ESM-1b 0.00
- AlphaMissense 0.92
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 5.2e-05)
- Structural context available