M6V (p.Met6Val) variant of ATRX (Chromatin remodeler ATRX)
M6V (p.Met6Val) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Alpha thalassemia-X-linked intellectual disability syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
M6V (p.Met6Val) variant details
- p.Met6Val
- rs782080475
- ClinGen CA10458408
- ClinVar RCV000801601
- ClinVar RCV001566085
- Conflicting interpretations
- Alpha thalassemia-X-linked intellectual disability syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 19.80
- PolyPhen-2 0.02
- SIFT 0.32
- ClinVar: Conflicting classifications of pathogenicity (Alpha thalassemia-X-linked intellectual disability syndrome; not)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)