P78H (p.Pro78His) variant of SLC25A20 (O43772)
P78H (p.Pro78His) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
P78H (p.Pro78His) variant details
- p.Pro78His
- ExAC rs774897635
- TOPMed rs774897635
- gnomAD rs774897635
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.90
- MetaLR 0.70
- MetaSVM 0.61
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available