E113K (p.Glu113Lys) variant of ATRX (Chromatin remodeler ATRX)
E113K (p.Glu113Lys) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
E113K (p.Glu113Lys) variant details
- p.Glu113Lys
- rs781803934
- NCI-TCGA Cosmic COSV6486
- cosmic curated COSV64869
- ExAC rs781803934
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.63
- ESM-1b 0.00
- AlphaMissense 0.23
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available