E96K (p.Glu96Lys) variant of TULP1 (Tubby-related protein 1)
E96K (p.Glu96Lys) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
E96K (p.Glu96Lys) variant details
- p.Glu96Lys
- TOPMed rs867991935
- gnomAD rs867991935
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the HGDP:LAHU population (allele frequency 0.1)
- Structural context available