R29P (p.Arg29Pro) variant of TULP1 (Tubby-related protein 1)
R29P (p.Arg29Pro) in TULP1 (Tubby-related protein 1) is a missense change. Clinical records from ClinVar 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 0.22 / 1. The record also includes population frequency data and structural context.
R29P (p.Arg29Pro) variant details
- p.Arg29Pro
- TOPMed rs1412251752
- gnomAD rs1412251752
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 12.30
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available