I127V (p.Ile127Val) variant of ATRX (Chromatin remodeler ATRX)
I127V (p.Ile127Val) in ATRX (Chromatin remodeler ATRX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
I127V (p.Ile127Val) variant details
- p.Ile127Val
- gnomAD rs1569540319
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available