A81T (p.Ala81Thr) variant of TULP1 (Tubby-related protein 1)
A81T (p.Ala81Thr) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A81T (p.Ala81Thr) variant details
- p.Ala81Thr
- gnomAD rs1235696684
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 11.30
- PolyPhen-2 0.04
- SIFT 0.05
- Population evidence available
- Structural context available