D144V (p.Asp144Val) variant of ATP13A2 (Q9NQ11)
D144V (p.Asp144Val) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
D144V (p.Asp144Val) variant details
- p.Asp144Val
- rs145031260
- ClinGen CA637649
- ClinVar RCV000822972
- ClinVar RCV001766749
- Uncertain significance
- Autosomal recessive spastic paraplegia type 78; Kufor-Rakeb syndrome; Inborn gen
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.24
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Autosomal recessive spastic paraplegia type 78; Kufor-Rakeb synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00012)
- 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)