R74W (p.Arg74Trp) variant of ATP13A2 (Q9NQ11)
R74W (p.Arg74Trp) in ATP13A2 (Q9NQ11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R74W (p.Arg74Trp) variant details
- p.Arg74Trp
- rs753087058
- ClinGen CA637728
- ClinVar RCV000710708
- ClinVar RCV001861951
- Uncertain significance
- Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78; Inborn gen
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.06
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia typ)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-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)