R60Q (p.Arg60Gln) variant of TULP1 (Tubby-related protein 1)
R60Q (p.Arg60Gln) 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 Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R60Q (p.Arg60Gln) variant details
- p.Arg60Gln
- rs1490623059
- ClinGen CA363784890
- ClinVar RCV002726331
- ClinVar RCV003250572
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 24.70
- PolyPhen-2 0.92
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:HAN population (allele frequency 0.015)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)