L52F (p.Leu52Phe) variant of SDHAF2 (Q9NX18)
L52F (p.Leu52Phe) in SDHAF2 (Q9NX18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L52F (p.Leu52Phe) variant details
- p.Leu52Phe
- gnomAD 11-61437744-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.51
- MetaLR 0.62
- MetaSVM 0.19
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available