A111T (p.Ala111Thr) variant of TULP1 (Tubby-related protein 1)
A111T (p.Ala111Thr) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A111T (p.Ala111Thr) variant details
- p.Ala111Thr
- 1000Genomes rs556979411
- ExAC rs556979411
- gnomAD rs556979411
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 20.80
- PolyPhen-2 0.05
- SIFT 0.20
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available