A89V (p.Ala89Val) variant of TULP1 (Tubby-related protein 1)
A89V (p.Ala89Val) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A89V (p.Ala89Val) variant details
- p.Ala89Val
- gnomAD rs1422751896
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 23.90
- PolyPhen-2 0.28
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.1e-06)
- Structural context available