R71G (p.Arg71Gly) variant of TULP1 (Tubby-related protein 1)
R71G (p.Arg71Gly) in TULP1 (Tubby-related protein 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R71G (p.Arg71Gly) variant details
- p.Arg71Gly
- ExAC rs757672643
- TOPMed rs757672643
- gnomAD rs757672643
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available