R71W (p.Arg71Trp) variant of TULP1 (Tubby-related protein 1)
R71W (p.Arg71Trp) in TULP1 (Tubby-related protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R71W (p.Arg71Trp) variant details
- p.Arg71Trp
- ExAC rs757672643
- TOPMed rs757672643
- gnomAD rs757672643
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.29
- ESM-1b 0.45
- AlphaMissense 0.15
- CADD 23.30
- PolyPhen-2 0.33
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)
- Structural context available