G49S (p.Gly49Ser) variant of ATP13A2 (Q9NQ11)
G49S (p.Gly49Ser) in ATP13A2 (Q9NQ11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
G49S (p.Gly49Ser) variant details
- p.Gly49Ser
- rs56379718
- ClinGen CA637746
- cosmic curated COSV10882
- ClinVar RCV000874010
- Benign/Likely benign
- Inborn genetic diseases; Kufor-Rakeb syndrome; Autosomal recessive spastic parap
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.04
- CADD 24.60
- PolyPhen-2 0.58
- SIFT 0.03
- ClinVar: Benign/Likely benign (Inborn genetic diseases; Kufor-Rakeb syndrome; Autosomal recessi)
- EBI: Benign (in dbSNP:rs56379718)
- UniProt: Benign (in dbSNP:rs56379718)
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.19)
- Structural context available
- Cited in: ATP13A2 variability in Parkinson disease. (PMID 19085912)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)