N43K (p.Asn43Lys) variant of ATRX (Chromatin remodeler ATRX)
N43K (p.Asn43Lys) in ATRX (Chromatin remodeler ATRX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
N43K (p.Asn43Lys) variant details
- p.Asn43Lys
- Ensembl rs2073478511
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 0.23
- Population evidence available
- Structural context available