R48R (p.Arg48Arg) variant of GALT (P07902)
R48R (p.Arg48Arg) in GALT (P07902) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R48R (p.Arg48Arg) variant details
- p.Arg48Arg
- rs371258192
- gnomAD 9-34647150-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.304
- CADD 15.20
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Literature evidence available