E8K (p.Glu8Lys) variant of ATRX (Chromatin remodeler ATRX)
E8K (p.Glu8Lys) in ATRX (Chromatin remodeler ATRX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
E8K (p.Glu8Lys) variant details
- p.Glu8Lys
- TOPMed rs2073484080
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.69
- CADD 23.20
- PolyPhen-2 0.24
- SIFT 0.12
- Most common in the African/African-American population (allele frequency 7.7e-05)
- Structural context available