Q27H (p.Gln27His) variant of SDHA (P31040)
Q27H (p.Gln27His) in SDHA (P31040) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
Q27H (p.Gln27His) variant details
- p.Gln27His
- ExAC rs759523671
- gnomAD rs759523671
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.15
- CADD 1.23
- PolyPhen-2 0.00
- SIFT 0.14
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available