A3P (p.Ala3Pro) variant of ATP13A2 (Q9NQ11)
A3P (p.Ala3Pro) in ATP13A2 (Q9NQ11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Kufor-Rakeb syndrome; Autosomal recessive spastic parap. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A3P (p.Ala3Pro) variant details
- p.Ala3Pro
- rs549839037
- ClinGen CA637809
- ClinVar RCV000991571
- ClinVar RCV001392172
- Conflicting interpretations
- Inborn genetic diseases; Kufor-Rakeb syndrome; Autosomal recessive spastic parap
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.30
- CADD 18.90
- PolyPhen-2 0.18
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Kufor-Rakeb syndrome; Autosomal recessi)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.026)
- 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)