P78A (p.Pro78Ala) variant of SLC25A20 (O43772)
P78A (p.Pro78Ala) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
P78A (p.Pro78Ala) variant details
- p.Pro78Ala
- gnomAD rs1237638371
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.69
- MetaLR 0.59
- MetaSVM 0.19
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available