H12Y (p.His12Tyr) variant of SDHC (Q99643)
H12Y (p.His12Tyr) in SDHC (Q99643) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
H12Y (p.His12Tyr) variant details
- p.His12Tyr
- gnomAD 1-161323627-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.44
- MetaLR 0.72
- MetaSVM 0.39
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available