R30H (p.Arg30His) variant of TULP1 (Tubby-related protein 1)
R30H (p.Arg30His) 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 not provided. 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.
R30H (p.Arg30His) variant details
- p.Arg30His
- rs1398566369
- ClinGen CA363785267
- ClinVar RCV002047470
- TOPMed rs1398566369
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 20.20
- PolyPhen-2 0.03
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available