A83T (p.Ala83Thr) variant of TULP1 (Tubby-related protein 1)
A83T (p.Ala83Thr) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A83T (p.Ala83Thr) variant details
- p.Ala83Thr
- gnomAD rs1340377003
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 8.50
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the South Asian population (allele frequency 9.8e-05)
- Structural context available