A13A (p.Ala13Ala) variant of ATP1A1 (P05023)
A13A (p.Ala13Ala) in ATP1A1 (P05023) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A13A (p.Ala13Ala) variant details
- p.Ala13Ala
- rs1060366
- gnomAD 1-116384040-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0924
- CADD 1.66
- Most common in the Ashkenazi Jewish population (allele frequency 0.0066)
- Structural context available
- Cited in: Association between a novel G94A single nucleotide polymorphism in ATP1A1 gene and type 2 diabetes mellitus among… (PMID 31523248)