R133R (p.Arg133Arg) variant of SLC25A20 (O43772)
R133R (p.Arg133Arg) in SLC25A20 (O43772) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R133R (p.Arg133Arg) variant details
- p.Arg133Arg
- rs768931116
- gnomAD 3-48879376-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.256
- CADD 11.80
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available