H34S (p.His34Ser) variant of SDHA (P31040)
H34S (p.His34Ser) in SDHA (P31040) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
H34S (p.His34Ser) variant details
- p.His34Ser
- gnomAD 5-223513-G-GT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.295
- CADD 20.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available