L108F (p.Leu108Phe) variant of SLC25A20 (O43772)
L108F (p.Leu108Phe) in SLC25A20 (O43772) 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 and structural context.
L108F (p.Leu108Phe) variant details
- p.Leu108Phe
- TOPMed rs890427954
- gnomAD rs890427954
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.59
- MetaLR 0.56
- MetaSVM 0.19
- CADD 25.30
- PolyPhen-2 0.46
- SIFT 0.05
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available