N45S (p.Asn45Ser) variant of SDHC (Q99643)
N45S (p.Asn45Ser) in SDHC (Q99643) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
N45S (p.Asn45Ser) variant details
- p.Asn45Ser
- gnomAD 1-161328452-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.66
- MetaLR 0.93
- MetaSVM 1.07
- CADD 24.50
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available