A38T (p.Ala38Thr) variant of TULP1 (Tubby-related protein 1)
A38T (p.Ala38Thr) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A38T (p.Ala38Thr) variant details
- p.Ala38Thr
- TOPMed rs1290625573
- gnomAD rs1290625573
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 22.00
- PolyPhen-2 0.05
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 7.8e-05)
- Structural context available