R90S (p.Arg90Ser) variant of TULP1 (Tubby-related protein 1)
R90S (p.Arg90Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R90S (p.Arg90Ser) variant details
- p.Arg90Ser
- rs775531277
- ClinGen CA3772973
- ClinVar RCV002878061
- ExAC rs775531277
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.32
- CADD 24.00
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- 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)