N45R (p.Asn45Arg) variant of SDHC (Q99643)
N45R (p.Asn45Arg) in SDHC (Q99643) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
N45R (p.Asn45Arg) variant details
- p.Asn45Arg
- gnomAD 1-161328451-A-AG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.622
- CADD 26.50
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available