R13R (p.Arg13Arg) variant of SLC25A14 (O95258)
R13R (p.Arg13Arg) in SLC25A14 (O95258) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R13R (p.Arg13Arg) variant details
- p.Arg13Arg
- rs368952448
- gnomAD X-130340317-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.619
- CADD 15.40
- Most common in the HGDP:PATHAN population (allele frequency 0.083)
- Structural context available
- Literature evidence available