L4R (p.Leu4Arg) variant of SDHD (O14521)
L4R (p.Leu4Arg) in SDHD (O14521) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
L4R (p.Leu4Arg) variant details
- p.Leu4Arg
- gnomAD 11-112086918-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.55
- CADD 24.00
- PolyPhen-2 0.58
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available