A9P (p.Ala9Pro) variant of SDHD (O14521)
A9P (p.Ala9Pro) in SDHD (O14521) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
A9P (p.Ala9Pro) variant details
- p.Ala9Pro
- ExAC rs772671893
- TOPMed rs772671893
- gnomAD rs772671893
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.48
- CADD 24.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:DAUR population (allele frequency 0.056)
- Structural context available