L4P (p.Leu4Pro) variant of SDHD (O14521)
L4P (p.Leu4Pro) in SDHD (O14521) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
L4P (p.Leu4Pro) variant details
- p.Leu4Pro
- gnomAD 11-112086918-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.56
- CADD 23.70
- PolyPhen-2 0.67
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available