V20L (p.Val20Leu) variant of NSD1 (Q96L73)
V20L (p.Val20Leu) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Sotos syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
V20L (p.Val20Leu) variant details
- p.Val20Leu
- rs377302741
- ClinGen CA132834028
- ClinVar RCV003232457
- ClinVar RCV005095401
- Uncertain significance
- Inborn genetic diseases; not provided; Sotos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.35
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Sotos syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)