R17R (p.Arg17Arg) variant of SDHD (O14521)
R17R (p.Arg17Arg) in SDHD (O14521) is a protein-truncating 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.
R17R (p.Arg17Arg) variant details
- p.Arg17Arg
- rs199890548
- gnomAD 11-112086958-A-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.616
- CADD 24.20
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Literature evidence available