D124E (p.Asp124Glu) variant of TULP1 (Tubby-related protein 1)
D124E (p.Asp124Glu) in TULP1 (Tubby-related protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
D124E (p.Asp124Glu) variant details
- p.Asp124Glu
- rs147950414
- ClinGen CA3772939
- ClinVar RCV001246842
- ClinVar RCV005762227
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.58
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00098)
- 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)