K27Q (p.Lys27Gln) variant of ATP1A1 (P05023)
K27Q (p.Lys27Gln) in ATP1A1 (P05023) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
K27Q (p.Lys27Gln) variant details
- p.Lys27Gln
- rs906254720
- ClinGen CA30066740
- ClinVar RCV001897203
- ClinVar RCV005742298
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.28
- MetaLR 0.43
- MetaSVM -0.30
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.56
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 0.58)
- 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)