Q85R (p.Gln85Arg) variant of TULP1 (Tubby-related protein 1)
Q85R (p.Gln85Arg) 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 Leber congenital amaurosis 15; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
Q85R (p.Gln85Arg) variant details
- p.Gln85Arg
- rs754040672
- ClinGen CA3772979
- ClinVar RCV000341031
- ClinVar RCV000400311
- Uncertain significance
- Leber congenital amaurosis 15; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 1.47
- PolyPhen-2 0.00
- SIFT 0.92
- ClinVar: Uncertain significance (Leber congenital amaurosis 15; Inborn genetic diseases; not prov)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-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)