E50K (p.Glu50Lys) variant of TULP1 (Tubby-related protein 1)
E50K (p.Glu50Lys) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
E50K (p.Glu50Lys) variant details
- p.Glu50Lys
- Ensembl rs1761223760
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available