E26G (p.Glu26Gly) variant of NSD1 (Q96L73)
E26G (p.Glu26Gly) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E26G (p.Glu26Gly) variant details
- p.Glu26Gly
- rs752376308
- ClinGen CA3576842
- ClinVar RCV004493690
- ClinVar RCV005104808
- Benign/Likely benign
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.39
- CADD 23.90
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Benign/Likely benign (Inborn genetic diseases; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)