V4S (p.Val4Ser) variant of SDHA (P31040)
V4S (p.Val4Ser) in SDHA (P31040) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
V4S (p.Val4Ser) variant details
- p.Val4Ser
- rs2126522171
- gnomAD 5-218360-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.507
- CADD 10.60
- Population evidence available
- Structural context available
- Literature evidence available