P63L (p.Pro63Leu) variant of LRRK2 (Q5S007)
P63L (p.Pro63Leu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P63L (p.Pro63Leu) variant details
- p.Pro63Leu
- rs2499335926
- ClinGen CA384399165
- ClinVar RCV002408001
- ClinVar RCV005242245
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.26
- MetaLR 0.22
- MetaSVM -0.70
- CADD 27.60
- PolyPhen-2 0.96
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)