R82G (p.Arg82Gly) variant of TULP1 (Tubby-related protein 1)
R82G (p.Arg82Gly) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
R82G (p.Arg82Gly) variant details
- p.Arg82Gly
- TOPMed rs1307986064
- gnomAD rs1307986064
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 3.81
- PolyPhen-2 0.03
- SIFT 0.57
- Most common in the Middle Eastern population (allele frequency 0.0032)
- Structural context available