H30N (p.His30Asn) variant of SDHD (O14521)
H30N (p.His30Asn) 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 0.30 / 1. The record also includes population frequency data and structural context.
H30N (p.His30Asn) variant details
- p.His30Asn
- cosmic curated COSV54779
- 1000Genomes rs561759202
- ExAC rs561759202
- TOPMed rs561759202
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.38
- CADD 9.50
- PolyPhen-2 0.01
- SIFT 0.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available