R82Q (p.Arg82Gln) variant of TULP1 (Tubby-related protein 1)
R82Q (p.Arg82Gln) 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 0.12 / 1. The record also includes population frequency data and structural context.
R82Q (p.Arg82Gln) variant details
- p.Arg82Gln
- rs753258431
- ClinGen CA3772982
- ClinVar RCV001242485
- ExAC rs753258431
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 2.62
- PolyPhen-2 0.05
- SIFT 0.56
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available