E73G (p.Glu73Gly) variant of TULP1 (Tubby-related protein 1)
E73G (p.Glu73Gly) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
E73G (p.Glu73Gly) variant details
- p.Glu73Gly
- gnomAD rs1412026729
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available