M6T (p.Met6Thr) variant of ATRX (Chromatin remodeler ATRX)
M6T (p.Met6Thr) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
M6T (p.Met6Thr) variant details
- p.Met6Thr
- rs781837406
- ClinGen CA10458407
- cosmic curated COSV11559
- ClinVar RCV003143677
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available