I31L (p.Ile31Leu) variant of SDHD (O14521)
I31L (p.Ile31Leu) in SDHD (O14521) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
I31L (p.Ile31Leu) variant details
- p.Ile31Leu
- gnomAD 11-112087895-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.36
- CADD 10.50
- PolyPhen-2 0.00
- SIFT 0.67
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available