A107V (p.Ala107Val) variant of ATRX (Chromatin remodeler ATRX)
A107V (p.Ala107Val) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Alpha thalassemia-X-linked intellectual disability syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A107V (p.Ala107Val) variant details
- p.Ala107Val
- rs782431661
- ClinGen CA10458327
- cosmic curated COSV10096
- ClinVar RCV002646910
- Likely benign
- Alpha thalassemia-X-linked intellectual disability syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 16.30
- PolyPhen-2 0.01
- SIFT 0.56
- ClinVar: Likely benign (Alpha thalassemia-X-linked intellectual disability syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)