S70F (p.Ser70Phe) variant of LRRK2 (Q5S007)
S70F (p.Ser70Phe) 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 0.38 / 1. The record also includes published literature and structural context.
S70F (p.Ser70Phe) variant details
- p.Ser70Phe
- rs1555171842
- ClinGen CA384399312
- ClinVar RCV003182592
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- AlphaMissense 0.11
- MetaLR 0.15
- MetaSVM -0.66
- PolyPhen-2 0.95
- SIFT 0.03
- EVE 0.45
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)