D106V (p.Asp106Val) variant of ATRX (Chromatin remodeler ATRX)
D106V (p.Asp106Val) in ATRX (Chromatin remodeler ATRX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
D106V (p.Asp106Val) variant details
- p.Asp106Val
- TOPMed rs1285414081
- gnomAD rs1285414081
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.59
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 25.30
- PolyPhen-2 0.60
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available