P28L (p.Pro28Leu) variant of SDHD (O14521)
P28L (p.Pro28Leu) in SDHD (O14521) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
P28L (p.Pro28Leu) variant details
- p.Pro28Leu
- gnomAD 11-112087887-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.71
- CADD 26.20
- PolyPhen-2 0.36
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available