T12M (p.Thr12Met) variant of ATP13A2 (Q9NQ11)
T12M (p.Thr12Met) 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; 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.
T12M (p.Thr12Met) variant details
- p.Thr12Met
- rs151117874
- ClinGen CA637791
- ClinVar RCV000801260
- ClinVar RCV001097440
- Conflicting interpretations
- Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78; Inborn gen
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.50
- CADD 22.10
- PolyPhen-2 0.20
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia typ)
- EBI: Likely benign (in KRS)
- UniProt: Likely benign (in KRS)
- Most common in the REMAINING population (allele frequency 0.00022)
- Structural context available
- Cited in: ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease. (PMID 17485642)
- Cited in: Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset… (PMID 22768177)