S68L (p.Ser68Leu) variant of ATRX (Chromatin remodeler ATRX)
S68L (p.Ser68Leu) 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.
S68L (p.Ser68Leu) variant details
- p.Ser68Leu
- cosmic curated COSV64870
- Ensembl rs2148681551
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.56
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 27.90
- PolyPhen-2 0.09
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available