P59L (p.Pro59Leu) variant of TULP1 (Tubby-related protein 1)
P59L (p.Pro59Leu) 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 not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P59L (p.Pro59Leu) variant details
- p.Pro59Leu
- rs750115295
- ClinGen CA3773005
- cosmic curated COSV57692
- ClinVar RCV001920462
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 23.70
- PolyPhen-2 0.96
- SIFT 0.07
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- 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)