T46S (p.Thr46Ser) variant of LRRK2 (Q5S007)
T46S (p.Thr46Ser) in LRRK2 (Q5S007) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
T46S (p.Thr46Ser) variant details
- p.Thr46Ser
- rs941811236
- ClinGen CA384398734
- ClinVar RCV002383665
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.03
- MetaLR 0.08
- MetaSVM -1.04
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- 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)