A89P (p.Ala89Pro) variant of TULP1 (Tubby-related protein 1)
A89P (p.Ala89Pro) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A89P (p.Ala89Pro) variant details
- p.Ala89Pro
- Ensembl rs554200612
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 21.70
- PolyPhen-2 0.87
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available