D94Y (p.Asp94Tyr) variant of TULP1 (Tubby-related protein 1)
D94Y (p.Asp94Tyr) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
D94Y (p.Asp94Tyr) variant details
- p.Asp94Tyr
- ExAC rs769395762
- gnomAD rs769395762
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.81
- ESM-1b 0.29
- AlphaMissense 0.34
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available