P5S (p.Pro5Ser) variant of ATRX (Chromatin remodeler ATRX)
P5S (p.Pro5Ser) in ATRX (Chromatin remodeler ATRX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P5S (p.Pro5Ser) variant details
- p.Pro5Ser
- Ensembl rs2148995088
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 18.90
- PolyPhen-2 0.08
- SIFT 0.24
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available