V53M (p.Val53Met) variant of ATP13A2 (Q9NQ11)
V53M (p.Val53Met) 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 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
V53M (p.Val53Met) variant details
- p.Val53Met
- rs142699829
- ClinGen CA637740
- cosmic curated COSV58697
- ClinVar RCV001224405
- Uncertain significance
- Autosomal recessive spastic paraplegia type 78; Kufor-Rakeb syndrome; Inborn gen
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.02
- CADD 14.50
- PolyPhen-2 0.04
- SIFT 0.23
- ClinVar: Uncertain significance (Autosomal recessive spastic paraplegia type 78; Kufor-Rakeb synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- 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)