P144T (p.Pro144Thr) variant of ATRX (Chromatin remodeler ATRX)
P144T (p.Pro144Thr) in ATRX (Chromatin remodeler ATRX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
P144T (p.Pro144Thr) variant details
- p.Pro144Thr
- ExAC rs782762156
- gnomAD rs782762156
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.72
- ESM-1b 0.55
- AlphaMissense 0.97
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available