P78T (p.Pro78Thr) variant of TULP1 (Tubby-related protein 1)
P78T (p.Pro78Thr) 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 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P78T (p.Pro78Thr) variant details
- p.Pro78Thr
- rs2533809332
- ClinGen CA363784657
- ClinVar RCV002747903
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 15.60
- PolyPhen-2 0.07
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)