R38G (p.Arg38Gly) variant of SDHD (O14521)
R38G (p.Arg38Gly) in SDHD (O14521) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
R38G (p.Arg38Gly) variant details
- p.Arg38Gly
- cosmic curated COSV10956
- TOPMed rs80338843
- gnomAD rs80338843
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.53
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.03
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available