E122D (p.Glu122Asp) variant of TULP1 (Tubby-related protein 1)
E122D (p.Glu122Asp) 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 TULP1-related disorder; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
E122D (p.Glu122Asp) variant details
- p.Glu122Asp
- rs113772629
- ClinGen CA235186
- ClinVar RCV000154104
- 1000Genomes rs113772629
- Conflicting interpretations
- TULP1-related disorder; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0926
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 0.19
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Conflicting classifications of pathogenicity (TULP1-related disorder; not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available