N12S (p.Asn12Ser) variant of ATRX (Chromatin remodeler ATRX)
N12S (p.Asn12Ser) 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 not provided; Inborn genetic diseases; Alpha thalassemia-X-linked intellectual d. 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.
N12S (p.Asn12Ser) variant details
- p.Asn12Ser
- rs782399326
- ClinGen CA10458393
- ClinVar RCV001239681
- ClinVar RCV002563952
- Likely benign
- not provided; Inborn genetic diseases; Alpha thalassemia-X-linked intellectual d
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Likely benign (not provided; Inborn genetic diseases; Alpha thalassemia-X-linke)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00011)
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)