E72Q (p.Glu72Gln) variant of TULP1 (Tubby-related protein 1)
E72Q (p.Glu72Gln) in TULP1 (Tubby-related protein 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E72Q (p.Glu72Gln) variant details
- p.Glu72Gln
- gnomAD rs1761209530
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 17.40
- PolyPhen-2 0.06
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available