M40V (p.Met40Val) variant of ATRX (Chromatin remodeler ATRX)
M40V (p.Met40Val) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Alpha thalassemia-X-linked intellectual disability syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
M40V (p.Met40Val) variant details
- p.Met40Val
- rs149990714
- ClinGen CA10458390
- ClinVar RCV001279988
- ESP rs149990714
- Benign
- Alpha thalassemia-X-linked intellectual disability syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.55
- MetaSVM -0.29
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Benign (Alpha thalassemia-X-linked intellectual disability syndrome)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)