Y88C (p.Tyr88Cys) variant of TULP1 (Tubby-related protein 1)
Y88C (p.Tyr88Cys) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
Y88C (p.Tyr88Cys) variant details
- p.Tyr88Cys
- rs762751444
- ClinGen CA3772974
- ClinVar RCV001039781
- ClinVar RCV002551457
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.42
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00087)
- 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)