I127V (p.Ile127Val) variant of SLC25A20 (O43772)
I127V (p.Ile127Val) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
I127V (p.Ile127Val) variant details
- p.Ile127Val
- gnomAD 3-48879396-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.39
- MetaLR 0.25
- MetaSVM -0.74
- CADD 21.10
- PolyPhen-2 0.20
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available