R60G (p.Arg60Gly) variant of TULP1 (Tubby-related protein 1)
R60G (p.Arg60Gly) 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 0.29 / 1. The record also includes population frequency data and structural context.
R60G (p.Arg60Gly) variant details
- p.Arg60Gly
- TOPMed rs1202178745
- gnomAD rs1202178745
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 23.80
- PolyPhen-2 0.06
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2e-06)
- Structural context available