G6C (p.Gly6Cys) variant of SDHA (P31040)
G6C (p.Gly6Cys) in SDHA (P31040) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
G6C (p.Gly6Cys) variant details
- p.Gly6Cys
- gnomAD 5-218371-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.10
- CADD 14.50
- PolyPhen-2 0.02
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available