M51V (p.Met51Val) variant of SLC25A20 (O43772)
M51V (p.Met51Val) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
M51V (p.Met51Val) variant details
- p.Met51Val
- gnomAD rs999921622
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.23
- MetaLR 0.22
- MetaSVM -0.84
- CADD 13.60
- PolyPhen-2 0.01
- SIFT 0.21
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available