E73K (p.Glu73Lys) variant of TULP1 (Tubby-related protein 1)
E73K (p.Glu73Lys) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
E73K (p.Glu73Lys) variant details
- p.Glu73Lys
- TOPMed rs1158745046
- gnomAD rs1158745046
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 20.90
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available