A76D (p.Ala76Asp) variant of SLC25A20 (O43772)
A76D (p.Ala76Asp) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
A76D (p.Ala76Asp) variant details
- p.Ala76Asp
- gnomAD rs1456549303
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.80
- MetaLR 0.63
- MetaSVM 0.30
- CADD 25.80
- PolyPhen-2 0.84
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available