P81L (p.Pro81Leu) variant of SLC19A3 (Thiamine transporter 2)
P81L (p.Pro81Leu) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Biotin-responsive basal ganglia disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
P81L (p.Pro81Leu) variant details
- p.Pro81Leu
- rs752029795
- ClinGen CA2149346
- ClinVar RCV000818153
- ClinVar RCV002535464
- Uncertain significance
- Inborn genetic diseases; Biotin-responsive basal ganglia disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.28
- CADD 28.40
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Biotin-responsive basal ganglia disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)