L12M (p.Leu12Met) variant of SDHAF2 (Q9NX18)
L12M (p.Leu12Met) in SDHAF2 (Q9NX18) 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.
L12M (p.Leu12Met) variant details
- p.Leu12Met
- gnomAD 11-61430180-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.16
- MetaLR 0.32
- MetaSVM -0.74
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.49
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available