N43T (p.Asn43Thr) variant of ATRX (Chromatin remodeler ATRX)
N43T (p.Asn43Thr) in ATRX (Chromatin remodeler ATRX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
N43T (p.Asn43Thr) variant details
- p.Asn43Thr
- ExAC rs782205682
- gnomAD rs782205682
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available