K72N (p.Lys72Asn) variant of ATRX (Chromatin remodeler ATRX)
K72N (p.Lys72Asn) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes structural context.
K72N (p.Lys72Asn) variant details
- p.Lys72Asn
- Ensembl rs2148681410
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- ESM-1b 0.00
- AlphaMissense 0.43
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available