A125P (p.Ala125Pro) variant of ATP13A2 (Q9NQ11)
A125P (p.Ala125Pro) in ATP13A2 (Q9NQ11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive spastic paraplegia type 78; Kufor-Rakeb syndrome; Inborn gen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A125P (p.Ala125Pro) variant details
- p.Ala125Pro
- rs1248544066
- ClinGen CA338263491
- ClinVar RCV002349234
- ClinVar RCV003094339
- Uncertain significance
- Autosomal recessive spastic paraplegia type 78; Kufor-Rakeb syndrome; Inborn gen
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.03
- CADD 7.08
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Uncertain significance (Autosomal recessive spastic paraplegia type 78; Kufor-Rakeb synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)