D101E (p.Asp101Glu) variant of TULP1 (Tubby-related protein 1)
D101E (p.Asp101Glu) in TULP1 (Tubby-related protein 1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
D101E (p.Asp101Glu) variant details
- p.Asp101Glu
- cosmic curated COSV57693
- TOPMed rs950379286
- gnomAD rs950379286
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- ESM-1b 0.00
- AlphaMissense 0.20
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available