G63R (p.Gly63Arg) variant of TULP1 (Tubby-related protein 1)
G63R (p.Gly63Arg) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G63R (p.Gly63Arg) variant details
- p.Gly63Arg
- rs757725696
- ClinGen CA363784861
- ClinVar RCV001865018
- ClinVar RCV004681266
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 23.10
- PolyPhen-2 0.47
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- 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)