A136V (p.Ala136Val) variant of ATP13A2 (Q9NQ11)
A136V (p.Ala136Val) in ATP13A2 (Q9NQ11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78; not provid. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A136V (p.Ala136Val) variant details
- p.Ala136Val
- rs562519835
- ClinGen CA637652
- cosmic curated COSV58701
- ClinVar RCV001062022
- Conflicting interpretations
- Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78; not provid
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.17
- CADD 7.41
- PolyPhen-2 0.00
- SIFT 0.83
- ClinVar: Conflicting classifications of pathogenicity (Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia typ)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- 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)