G70V (p.Gly70Val) variant of SLC25A20 (O43772)
G70V (p.Gly70Val) 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.
G70V (p.Gly70Val) variant details
- p.Gly70Val
- ExAC rs776327302
- TOPMed rs776327302
- gnomAD rs776327302
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.89
- MetaLR 0.75
- MetaSVM 0.69
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available