A89S (p.Ala89Ser) variant of TULP1 (Tubby-related protein 1)
A89S (p.Ala89Ser) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A89S (p.Ala89Ser) variant details
- p.Ala89Ser
- Ensembl rs554200612
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 9.96
- PolyPhen-2 0.42
- SIFT 0.18
- Population evidence available
- Structural context available