A45A (p.Ala45Ala) variant of FKRP (Q9H9S5)

Name: FKRP A45A (p.Ala45Ala) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-21
License: https://catvariant.com/terms-of-use

A45A (p.Ala45Ala) in FKRP (Q9H9S5) 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.

A45A (p.Ala45Ala) variant details

p.Ala45Ala
rs2287717
gnomAD 19-46755585-C-T
Synonymous
Variant Prioritization Score for Impact Estimate 0.092
CADD 1.61
Most common in the HGDP:ADYGEI population (allele frequency 0.44)
Structural context available
Cited in: Bioinformatics analysis of epigenetic and SNP-related molecular markers in systemic lupus erythematosus. (PMID 34306371)
Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)