S34P (p.Ser34Pro) variant of ATRX (Chromatin remodeler ATRX)
S34P (p.Ser34Pro) in ATRX (Chromatin remodeler ATRX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
S34P (p.Ser34Pro) variant details
- p.Ser34Pro
- gnomAD rs1557165729
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.59
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 24.30
- PolyPhen-2 0.98
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available