P119L (p.Pro119Leu) variant of ATP13A2 (Q9NQ11)
P119L (p.Pro119Leu) in ATP13A2 (Q9NQ11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78; Inborn gen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
P119L (p.Pro119Leu) variant details
- p.Pro119Leu
- rs752619582
- ClinGen CA637660
- cosmic curated COSV10519
- ClinVar RCV001036883
- Conflicting interpretations
- Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78; Inborn gen
- Missense
- Variant Prioritization Score for Impact Estimate 0.0394
- REVEL 0.01
- CADD 1.44
- PolyPhen-2 0.00
- SIFT 0.64
- ClinVar: Conflicting classifications of pathogenicity (Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia typ)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)