V4L (p.Val4Leu) variant of SDHA (P31040)
V4L (p.Val4Leu) in SDHA (P31040) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
V4L (p.Val4Leu) variant details
- p.Val4Leu
- gnomAD 5-218365-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0822
- REVEL 0.05
- CADD 8.43
- PolyPhen-2 0.00
- SIFT 0.50
- Most common in the Non-Finnish European population (allele frequency 9.6e-07)
- Structural context available
- Literature evidence available