A73V (p.Ala73Val) variant of ATP1A1 (P05023)
A73V (p.Ala73Val) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A73V (p.Ala73Val) variant details
- p.Ala73Val
- rs751968061
- ClinGen CA1025073
- NCI-TCGA Cosmic COSV9981
- cosmic curated COSV99814
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.34
- MetaLR 0.38
- MetaSVM -0.47
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Amish population (allele frequency 0.043)
- 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)