L19V (p.Leu19Val) variant of SDHD (O14521)
L19V (p.Leu19Val) in SDHD (O14521) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L19V (p.Leu19Val) variant details
- p.Leu19Val
- gnomAD 11-112087859-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.45
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available