A48P (p.Ala48Pro) variant of TULP1 (Tubby-related protein 1)
A48P (p.Ala48Pro) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A48P (p.Ala48Pro) variant details
- p.Ala48Pro
- Ensembl rs1581745290
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 11.20
- PolyPhen-2 0.04
- SIFT 0.15
- Population evidence available
- Structural context available