P36S (p.Pro36Ser) variant of ATRX (Chromatin remodeler ATRX)
P36S (p.Pro36Ser) in ATRX (Chromatin remodeler ATRX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
P36S (p.Pro36Ser) variant details
- p.Pro36Ser
- TOPMed rs1463852072
- gnomAD rs1463852072
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.57
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 23.20
- PolyPhen-2 0.98
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available